Abstract
PURPOSE: To explore two approaches for making the human genome more accessible and useful to practicing ophthalmologists. METHODS: DNA samples were obtained from patients with inherited eye diseases, and these samples were screened for sequence variations in known disease genes with a combination of single-strand conformational polymorphism analysis and automated DNA sequencing. Data from this screening were then used to evaluate strategies for productively narrowing the sample space as well as for estimating the pathogenic potential of variations that were discovered in individual patients. For the latter purpose, a universal nomenclature for pathogenic potential was proposed based upon the segregation of disease alleles and the evolutionary conservation of specific residues as reflected by a substitution matrix known as blosum 62. RESULTS: Sequence variations were found to be unevenly distributed among disease-associated genes, such that screening strategies could be refined to discover more than 50% of clinically important sequence variations with only 10% of the effort. The use of the blosum 62 matrix was more statistically powerful than our previous method of estimating pathogenic probability. CONCLUSIONS: The size of the human genome requires that clinical questions be very carefully focused if they are to be meaningfully answered in a reasonable amount of time and with a reasonable amount of resources. By examining the behavior of known disease genes, one can design strategies for significantly focusing the sample space and for more effectively interpreting the variations that are found.
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- Acland G. M., Aguirre G. D., Ray J., Zhang Q., Aleman T. S., Cideciyan A. V., Pearce-Kelling S. E., Anand V., Zeng Y., Maguire A. M. Gene therapy restores vision in a canine model of childhood blindness. Nat Genet. 2001 May;28(1):92–95. doi: 10.1038/ng0501-92. [DOI] [PubMed] [Google Scholar]
- Alward W. L., Fingert J. H., Coote M. A., Johnson A. T., Lerner S. F., Junqua D., Durcan F. J., McCartney P. J., Mackey D. A., Sheffield V. C. Clinical features associated with mutations in the chromosome 1 open-angle glaucoma gene (GLC1A) N Engl J Med. 1998 Apr 9;338(15):1022–1027. doi: 10.1056/NEJM199804093381503. [DOI] [PubMed] [Google Scholar]
- Andréasson S., Ehinger B., Abrahamson M., Fex G. A six-generation family with autosomal dominant retinitis pigmentosa and a rhodopsin gene mutation (arginine-135-leucine). Ophthalmic Paediatr Genet. 1992 Sep;13(3):145–153. doi: 10.3109/13816819209046483. [DOI] [PubMed] [Google Scholar]
- Antiñolo G., Sánchez B., Borrego S., Rueda T., Chaparro P., Cabeza J. C. Identification of a new mutation at codon 171 of rhodopsin gene causing autosomal dominant retinitis pigmentosa. Hum Mol Genet. 1994 Aug;3(8):1421–1421. doi: 10.1093/hmg/3.8.1421. [DOI] [PubMed] [Google Scholar]
- Apfelstedt-Sylla E., Theischen M., Rüther K., Wedemann H., Gal A., Zrenner E. Extensive intrafamilial and interfamilial phenotypic variation among patients with autosomal dominant retinal dystrophy and mutations in the human RDS/peripherin gene. Br J Ophthalmol. 1995 Jan;79(1):28–34. doi: 10.1136/bjo.79.1.28. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Ayuso C., Reig C., Garcia-Sandoval B., Trujillo M. J., Antiñolo G., Borrego S., Carballo M. G106R rhodopsin mutation is also present in Spanish ADRP patients. Ophthalmic Genet. 1996 Sep;17(3):95–101. doi: 10.3109/13816819609057111. [DOI] [PubMed] [Google Scholar]
- Bareil C., Hamel C., Arnaud B., Demaille J., Claustres M. A complex allele (1064delTC and IVS2 + 22ins7) in the peripherin/RDS gene in retinitis pigmentosa with macular dystrophy. Ophthalmic Genet. 1997 Sep;18(3):129–138. doi: 10.3109/13816819709057126. [DOI] [PubMed] [Google Scholar]
- Berson E. L., Rosner B., Sandberg M. A., Dryja T. P. Ocular findings in patients with autosomal dominant retinitis pigmentosa and a rhodopsin gene defect (Pro-23-His). Arch Ophthalmol. 1991 Jan;109(1):92–101. doi: 10.1001/archopht.1991.01080010094039. [DOI] [PubMed] [Google Scholar]
- Berson E. L., Rosner B., Sandberg M. A., Weigel-DiFranco C., Dryja T. P. Ocular findings in patients with autosomal dominant retinitis pigmentosa and rhodopsin, proline-347-leucine. Am J Ophthalmol. 1991 May 15;111(5):614–623. doi: 10.1016/s0002-9394(14)73708-0. [DOI] [PubMed] [Google Scholar]
- Berson E. L., Sandberg M. A., Dryja T. P. Autosomal dominant retinitis pigmentosa with rhodopsin, valine-345-methionine. Trans Am Ophthalmol Soc. 1991;89:117–130. [PMC free article] [PubMed] [Google Scholar]
- Berson Eliot L., Rosner Bernard, Weigel-DiFranco Carol, Dryja Thaddeus P., Sandberg Michael A. Disease progression in patients with dominant retinitis pigmentosa and rhodopsin mutations. Invest Ophthalmol Vis Sci. 2002 Sep;43(9):3027–3036. [PubMed] [Google Scholar]
- Birch D. G., Hood D. C., Nusinowitz S., Pepperberg D. R. Abnormal activation and inactivation mechanisms of rod transduction in patients with autosomal dominant retinitis pigmentosa and the pro-23-his mutation. Invest Ophthalmol Vis Sci. 1995 Jul;36(8):1603–1614. [PubMed] [Google Scholar]
- Birky C. W., Jr The inheritance of genes in mitochondria and chloroplasts: laws, mechanisms, and models. Annu Rev Genet. 2001;35:125–148. doi: 10.1146/annurev.genet.35.102401.090231. [DOI] [PubMed] [Google Scholar]
- Birky C. W., Jr Uniparental inheritance of mitochondrial and chloroplast genes: mechanisms and evolution. Proc Natl Acad Sci U S A. 1995 Dec 5;92(25):11331–11338. doi: 10.1073/pnas.92.25.11331. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Bonaldo M. F., Lennon G., Soares M. B. Normalization and subtraction: two approaches to facilitate gene discovery. Genome Res. 1996 Sep;6(9):791–806. doi: 10.1101/gr.6.9.791. [DOI] [PubMed] [Google Scholar]
- Braude Peter, Pickering Susan, Flinter Frances, Ogilvie Caroline Mackie. Preimplantation genetic diagnosis. Nat Rev Genet. 2002 Dec;3(12):941–953. doi: 10.1038/nrg953. [DOI] [PubMed] [Google Scholar]
- Budu, Hayasaka S., Matsumoto M., Yamada T., Zhang X. Y., Hayasaka Y. Peripherin/RDS gene mutation (Pro210Leu) and polymorphisms in Japanese patients with retinal dystrophies. Jpn J Ophthalmol. 2001 Jul-Aug;45(4):355–358. doi: 10.1016/s0021-5155(01)00334-3. [DOI] [PubMed] [Google Scholar]
- Budu, Matsumoto M., Hayasaka S., Yamada T., Hayasaka Y. Rhodopsin gene codon 106 mutation (Gly-to-Arg) in a Japanese family with autosomal dominant retinitis pigmentosa. Jpn J Ophthalmol. 2000 Nov-Dec;44(6):610–614. doi: 10.1016/s0021-5155(00)00286-0. [DOI] [PubMed] [Google Scholar]
- Bunge S., Wedemann H., David D., Terwilliger D. J., van den Born L. I., Aulehla-Scholz C., Samanns C., Horn M., Ott J., Schwinger E. Molecular analysis and genetic mapping of the rhodopsin gene in families with autosomal dominant retinitis pigmentosa. Genomics. 1993 Jul;17(1):230–233. doi: 10.1006/geno.1993.1309. [DOI] [PubMed] [Google Scholar]
- Chan W. M., Yeung K. Y., Pang C. P., Baum L., Lau T. C., Kwok A. K., Lam D. S. Rhodopsin mutations in Chinese patients with retinitis pigmentosa. Br J Ophthalmol. 2001 Sep;85(9):1046–1048. doi: 10.1136/bjo.85.9.1046. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Cummins J. M., Wakayama T., Yanagimachi R. Fate of microinjected sperm components in the mouse oocyte and embryo. Zygote. 1997 Nov;5(4):301–308. doi: 10.1017/s0967199400003889. [DOI] [PubMed] [Google Scholar]
- Dikshit M., Agarwal R. Mutation analysis of codons 345 and 347 of rhodopsin gene in Indian retinitis pigmentosa patients. J Genet. 2001 Aug;80(2):111–116. doi: 10.1007/BF02728336. [DOI] [PubMed] [Google Scholar]
- Donoso L. A., Edwards A. O., Frost A., Vrabec T., Stone E. M., Hageman G. S., Perski T. Autosomal dominant Stargardt-like macular dystrophy. Surv Ophthalmol. 2001 Sep-Oct;46(2):149–163. doi: 10.1016/s0039-6257(01)00251-x. [DOI] [PubMed] [Google Scholar]
- Dryja T. P., Hahn L. B., Cowley G. S., McGee T. L., Berson E. L. Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa. Proc Natl Acad Sci U S A. 1991 Oct 15;88(20):9370–9374. doi: 10.1073/pnas.88.20.9370. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Dryja T. P., Hahn L. B., Kajiwara K., Berson E. L. Dominant and digenic mutations in the peripherin/RDS and ROM1 genes in retinitis pigmentosa. Invest Ophthalmol Vis Sci. 1997 Sep;38(10):1972–1982. [PubMed] [Google Scholar]
- Dryja T. P., McEvoy J. A., McGee T. L., Berson E. L. Novel rhodopsin mutations Gly114Val and Gln184Pro in dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci. 2000 Sep;41(10):3124–3127. [PubMed] [Google Scholar]
- Dryja T. P., McGee T. L., Hahn L. B., Cowley G. S., Olsson J. E., Reichel E., Sandberg M. A., Berson E. L. Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa. N Engl J Med. 1990 Nov 8;323(19):1302–1307. doi: 10.1056/NEJM199011083231903. [DOI] [PubMed] [Google Scholar]
- Dryja T. P., McGee T. L., Reichel E., Hahn L. B., Cowley G. S., Yandell D. W., Sandberg M. A., Berson E. L. A point mutation of the rhodopsin gene in one form of retinitis pigmentosa. Nature. 1990 Jan 25;343(6256):364–366. doi: 10.1038/343364a0. [DOI] [PubMed] [Google Scholar]
- Ekström U., Andréasson S., Ponjavic V., Abrahamson M., Sandgren O., Nilsson-Ehle P., Ehinger B. A Swedish family with a mutation in the peripherin/RDS gene (Arg-172-Trp) associated with a progressive retinal degeneration. Ophthalmic Genet. 1998 Sep;19(3):149–156. doi: 10.1076/opge.19.3.149.2186. [DOI] [PubMed] [Google Scholar]
- Ekström U., Ponjavic V., Abrahamson M., Nilsson-Ehle P., Andrëasson S., Stenström I., Ehinger B. Phenotypic expression of autosomal dominant retinitis pigmentosa in a Swedish family expressing a Phe-211-Leu variant of peripherin/RDS. Ophthalmic Genet. 1998 Mar;19(1):27–37. doi: 10.1076/opge.19.1.27.2179. [DOI] [PubMed] [Google Scholar]
- Farrar G. J., Findlay J. B., Kumar-Singh R., Kenna P., Humphries M. M., Sharpe E., Humphries P. Autosomal dominant retinitis pigmentosa: a novel mutation in the rhodopsin gene in the original 3q linked family. Hum Mol Genet. 1992 Dec;1(9):769–771. doi: 10.1093/hmg/1.9.769. [DOI] [PubMed] [Google Scholar]
- Farrar G. J., Kenna P., Jordan S. A., Kumar-Singh R., Humphries M. M., Sharp E. M., Sheils D. M., Humphries P. A three-base-pair deletion in the peripherin-RDS gene in one form of retinitis pigmentosa. Nature. 1991 Dec 12;354(6353):478–480. doi: 10.1038/354478a0. [DOI] [PubMed] [Google Scholar]
- Farrar G. J., Kenna P., Jordan S. A., Kumar-Singh R., Humphries M. M., Sharp E. M., Sheils D., Humphries P. Autosomal dominant retinitis pigmentosa: a novel mutation at the peripherin/RDS locus in the original 6p-linked pedigree. Genomics. 1992 Nov;14(3):805–807. doi: 10.1016/s0888-7543(05)80193-4. [DOI] [PubMed] [Google Scholar]
- Farrar G. J., Kenna P., Redmond R., Shiels D., McWilliam P., Humphries M. M., Sharp E. M., Jordan S., Kumar-Singh R., Humphries P. Autosomal dominant retinitis pigmentosa: a mutation in codon 178 of the rhodopsin gene in two families of Celtic origin. Genomics. 1991 Dec;11(4):1170–1171. [PubMed] [Google Scholar]
- Fingert J. H., Héon E., Liebmann J. M., Yamamoto T., Craig J. E., Rait J., Kawase K., Hoh S. T., Buys Y. M., Dickinson J. Analysis of myocilin mutations in 1703 glaucoma patients from five different populations. Hum Mol Genet. 1999 May;8(5):899–905. doi: 10.1093/hmg/8.5.899. [DOI] [PubMed] [Google Scholar]
- Freund C. L., Wang Q. L., Chen S., Muskat B. L., Wiles C. D., Sheffield V. C., Jacobson S. G., McInnes R. R., Zack D. J., Stone E. M. De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis. Nat Genet. 1998 Apr;18(4):311–312. doi: 10.1038/ng0498-311. [DOI] [PubMed] [Google Scholar]
- Fuchs S., Kranich H., Denton M. J., Zrenner E., Bhattacharya S. S., Humphries P., Gal A. Three novel rhodopsin mutations (C110F, L131P, A164V) in patients with autosomal dominant retinitis pigmentosa. Hum Mol Genet. 1994 Jul;3(7):1203–1203. doi: 10.1093/hmg/3.7.1203. [DOI] [PubMed] [Google Scholar]
- Fujiki K., Hotta Y., Hayakawa M., Sakuma H., Shiono T., Noro M., Sakuma T., Tamai M., Hikiji K., Kawaguchi R. Point mutations of rhodopsin gene found in Japanese families with autosomal dominant retinitis pigmentosa (ADRP). Jpn J Hum Genet. 1992 Jun;37(2):125–132. doi: 10.1007/BF01899733. [DOI] [PubMed] [Google Scholar]
- Fujiki K., Hotta Y., Murakami A., Yoshii M., Hayakawa M., Ichikawa T., Takeda M., Akeo K., Okisaka S., Kanai A. Missense mutation of rhodopsin gene codon 15 found in Japanese autosomal dominant retinitis pigmentosa. Jpn J Hum Genet. 1995 Sep;40(3):271–277. doi: 10.1007/BF01876186. [DOI] [PubMed] [Google Scholar]
- Gal A., Artlich A., Ludwig M., Niemeyer G., Olek K., Schwinger E., Schinzel A. Pro-347-Arg mutation of the rhodopsin gene in autosomal dominant retinitis pigmentosa. Genomics. 1991 Oct;11(2):468–470. doi: 10.1016/0888-7543(91)90159-c. [DOI] [PubMed] [Google Scholar]
- Garriga Pere, Manyosa Joan. The eye photoreceptor protein rhodopsin. Structural implications for retinal disease. FEBS Lett. 2002 Sep 25;528(1-3):17–22. doi: 10.1016/s0014-5793(02)03241-6. [DOI] [PubMed] [Google Scholar]
- Gerber S., Perrault I., Hanein S., Barbet F., Ducroq D., Ghazi I., Martin-Coignard D., Leowski C., Homfray T., Dufier J. L. Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis. Eur J Hum Genet. 2001 Aug;9(8):561–571. doi: 10.1038/sj.ejhg.5200689. [DOI] [PubMed] [Google Scholar]
- Giles R. E., Blanc H., Cann H. M., Wallace D. C. Maternal inheritance of human mitochondrial DNA. Proc Natl Acad Sci U S A. 1980 Nov;77(11):6715–6719. doi: 10.1073/pnas.77.11.6715. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Grüning G., Millan J. M., Meins M., Beneyto M., Caballero M., Apfelstedt-Sylla E., Bosch R., Zrenner E., Prieto F., Gal A. Mutations in the human peripherin/RDS gene associated with autosomal dominant retinitis pigmentosa. Hum Mutat. 1994;3(3):321–323. doi: 10.1002/humu.1380030326. [DOI] [PubMed] [Google Scholar]
- Haider N. B., Jacobson S. G., Cideciyan A. V., Swiderski R., Streb L. M., Searby C., Beck G., Hockey R., Hanna D. B., Gorman S. Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate. Nat Genet. 2000 Feb;24(2):127–131. doi: 10.1038/72777. [DOI] [PubMed] [Google Scholar]
- Haim M., Grundmann K., Gal A., Rosenberg T. Novel rhodopsin mutation (M216R) in a Danish family with autosomal dominant retinitis pigmentosa. Ophthalmic Genet. 1996 Dec;17(4):193–197. doi: 10.3109/13816819609057893. [DOI] [PubMed] [Google Scholar]
- Hayakawa M., Hotta Y., Imai Y., Fujiki K., Nakamura A., Yanashima K., Kanai A. Clinical features of autosomal dominant retinitis pigmentosa with rhodopsin gene codon 17 mutation and retinal neovascularization in a Japanese patient. Am J Ophthalmol. 1993 Feb 15;115(2):168–173. doi: 10.1016/s0002-9394(14)73920-0. [DOI] [PubMed] [Google Scholar]
- Heckenlively J. R., Rodriguez J. A., Daiger S. P. Autosomal dominant sectoral retinitis pigmentosa. Two families with transversion mutation in codon 23 of rhodopsin. Arch Ophthalmol. 1991 Jan;109(1):84–91. doi: 10.1001/archopht.1991.01080010086038. [DOI] [PubMed] [Google Scholar]
- Henikoff S., Henikoff J. G. Amino acid substitution matrices from protein blocks. Proc Natl Acad Sci U S A. 1992 Nov 15;89(22):10915–10919. doi: 10.1073/pnas.89.22.10915. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Horn M., Humphries P., Kunisch M., Marchese C., Apfelstedt-Sylla E., Fugi L., Zrenner E., Kenna P., Gal A., Farrar J. Deletions in exon 5 of the human rhodopsin gene causing a shift in the reading frame and autosomal dominant retinitis pigmentosa. Hum Genet. 1992 Nov;90(3):255–257. doi: 10.1007/BF00220073. [DOI] [PubMed] [Google Scholar]
- Hwa J., Klein-Seetharaman J., Khorana H. G. Structure and function in rhodopsin: Mass spectrometric identification of the abnormal intradiscal disulfide bond in misfolded retinitis pigmentosa mutants. Proc Natl Acad Sci U S A. 2001 Apr 24;98(9):4872–4876. doi: 10.1073/pnas.061632798. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Inglehearn C. F., Bashir R., Lester D. H., Jay M., Bird A. C., Bhattacharya S. S. A 3-bp deletion in the rhodopsin gene in a family with autosomal dominant retinitis pigmentosa. Am J Hum Genet. 1991 Jan;48(1):26–30. [PMC free article] [PubMed] [Google Scholar]
- Inglehearn C. F., Keen T. J., Bashir R., Jay M., Fitzke F., Bird A. C., Crombie A., Bhattacharya S. A completed screen for mutations of the rhodopsin gene in a panel of patients with autosomal dominant retinitis pigmentosa. Hum Mol Genet. 1992 Apr;1(1):41–45. doi: 10.1093/hmg/1.1.41. [DOI] [PubMed] [Google Scholar]
- Jacobson S. G., Kemp C. M., Cideciyan A. V., Macke J. P., Sung C. H., Nathans J. Phenotypes of stop codon and splice site rhodopsin mutations causing retinitis pigmentosa. Invest Ophthalmol Vis Sci. 1994 Apr;35(5):2521–2534. [PubMed] [Google Scholar]
- Jacobson S. G., Kemp C. M., Sung C. H., Nathans J. Retinal function and rhodopsin levels in autosomal dominant retinitis pigmentosa with rhodopsin mutations. Am J Ophthalmol. 1991 Sep 15;112(3):256–271. doi: 10.1016/s0002-9394(14)76726-1. [DOI] [PubMed] [Google Scholar]
- Kahn H. A., Leibowitz H. M., Ganley J. P., Kini M. M., Colton T., Nickerson R. S., Dawber T. R. The Framingham Eye Study. I. Outline and major prevalence findings. Am J Epidemiol. 1977 Jul;106(1):17–32. doi: 10.1093/oxfordjournals.aje.a112428. [DOI] [PubMed] [Google Scholar]
- Kajiwara K., Berson E. L., Dryja T. P. Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci. Science. 1994 Jun 10;264(5165):1604–1608. doi: 10.1126/science.8202715. [DOI] [PubMed] [Google Scholar]
- Kajiwara K., Hahn L. B., Mukai S., Travis G. H., Berson E. L., Dryja T. P. Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa. Nature. 1991 Dec 12;354(6353):480–483. doi: 10.1038/354480a0. [DOI] [PubMed] [Google Scholar]
- Kajiwara K., Sandberg M. A., Berson E. L., Dryja T. P. A null mutation in the human peripherin/RDS gene in a family with autosomal dominant retinitis punctata albescens. Nat Genet. 1993 Mar;3(3):208–212. doi: 10.1038/ng0393-208. [DOI] [PubMed] [Google Scholar]
- Keen T. J., Inglehearn C. F., Lester D. H., Bashir R., Jay M., Bird A. C., Jay B., Bhattacharya S. S. Autosomal dominant retinitis pigmentosa: four new mutations in rhodopsin, one of them in the retinal attachment site. Genomics. 1991 Sep;11(1):199–205. doi: 10.1016/0888-7543(91)90119-y. [DOI] [PubMed] [Google Scholar]
- Kemp C. M., Jacobson S. G., Roman A. J., Sung C. H., Nathans J. Abnormal rod dark adaptation in autosomal dominant retinitis pigmentosa with proline-23-histidine rhodopsin mutation. Am J Ophthalmol. 1992 Feb 15;113(2):165–174. doi: 10.1016/s0002-9394(14)71529-6. [DOI] [PubMed] [Google Scholar]
- Kikawa E., Nakazawa M., Chida Y., Shiono T., Tamai M. A novel mutation (Asn244Lys) in the peripherin/RDS gene causing autosomal dominant retinitis pigmentosa associated with bull's-eye maculopathy detected by nonradioisotopic SSCP. Genomics. 1994 Mar 1;20(1):137–139. doi: 10.1006/geno.1994.1142. [DOI] [PubMed] [Google Scholar]
- Kim R. Y., al-Maghtheh M., Fitzke F. W., Arden G. B., Jay M., Bhattacharya S. S., Bird A. C. Dominant retinitis pigmentosa associated with two rhodopsin gene mutations. Leu-40-Arg and an insertion disrupting the 5'-splice junction of exon 5. Arch Ophthalmol. 1993 Nov;111(11):1518–1524. doi: 10.1001/archopht.1993.01090110084030. [DOI] [PubMed] [Google Scholar]
- Klein B. E., Klein R. Cataracts and macular degeneration in older Americans. Arch Ophthalmol. 1982 Apr;100(4):571–573. doi: 10.1001/archopht.1982.01030030573002. [DOI] [PubMed] [Google Scholar]
- Kranich H., Bartkowski S., Denton M. J., Krey S., Dickinson P., Duvigneau C., Gal A. Autosomal dominant 'sector' retinitis pigmentosa due to a point mutation predicting an Asn-15-Ser substitution of rhodopsin. Hum Mol Genet. 1993 Jun;2(6):813–814. doi: 10.1093/hmg/2.6.813. [DOI] [PubMed] [Google Scholar]
- Kucinskas V., Payne A. M., Ambrasiene D., Jurgelevicius V., Steponaviciūte D., Arciuliene J. V., Daktaraviciene E., Bhattacharya S. Molecular genetic study of autosomal dominant retinitis pigmentosa in Lithuanian patients. Hum Hered. 1999 Mar;49(2):71–74. doi: 10.1159/000022847. [DOI] [PubMed] [Google Scholar]
- Kumaramanickavel G., Maw M., Denton M. J., John S., Srikumari C. R., Orth U., Oehlmann R., Gal A. Missense rhodopsin mutation in a family with recessive RP. Nat Genet. 1994 Sep;8(1):10–11. doi: 10.1038/ng0994-10. [DOI] [PubMed] [Google Scholar]
- Lander E. S., Linton L. M., Birren B., Nusbaum C., Zody M. C., Baldwin J., Devon K., Dewar K., Doyle M., FitzHugh W. Initial sequencing and analysis of the human genome. Nature. 2001 Feb 15;409(6822):860–921. doi: 10.1038/35057062. [DOI] [PubMed] [Google Scholar]
- Lang B. F., Gray M. W., Burger G. Mitochondrial genome evolution and the origin of eukaryotes. Annu Rev Genet. 1999;33:351–397. doi: 10.1146/annurev.genet.33.1.351. [DOI] [PubMed] [Google Scholar]
- Leibowitz H. M., Krueger D. E., Maunder L. R., Milton R. C., Kini M. M., Kahn H. A., Nickerson R. J., Pool J., Colton T. L., Ganley J. P. The Framingham Eye Study monograph: An ophthalmological and epidemiological study of cataract, glaucoma, diabetic retinopathy, macular degeneration, and visual acuity in a general population of 2631 adults, 1973-1975. Surv Ophthalmol. 1980 May-Jun;24(Suppl):335–610. [PubMed] [Google Scholar]
- Leske M. C. The epidemiology of open-angle glaucoma: a review. Am J Epidemiol. 1983 Aug;118(2):166–191. doi: 10.1093/oxfordjournals.aje.a113626. [DOI] [PubMed] [Google Scholar]
- Li Z. Y., Jacobson S. G., Milam A. H. Autosomal dominant retinitis pigmentosa caused by the threonine-17-methionine rhodopsin mutation: retinal histopathology and immunocytochemistry. Exp Eye Res. 1994 Apr;58(4):397–408. doi: 10.1006/exer.1994.1032. [DOI] [PubMed] [Google Scholar]
- Lightowlers R. N., Chinnery P. F., Turnbull D. M., Howell N. Mammalian mitochondrial genetics: heredity, heteroplasmy and disease. Trends Genet. 1997 Nov;13(11):450–455. doi: 10.1016/s0168-9525(97)01266-3. [DOI] [PubMed] [Google Scholar]
- Lotery A. J., Namperumalsamy P., Jacobson S. G., Weleber R. G., Fishman G. A., Musarella M. A., Hoyt C. S., Héon E., Levin A., Jan J. Mutation analysis of 3 genes in patients with Leber congenital amaurosis. Arch Ophthalmol. 2000 Apr;118(4):538–543. doi: 10.1001/archopht.118.4.538. [DOI] [PubMed] [Google Scholar]
- Macke J. P., Davenport C. M., Jacobson S. G., Hennessey J. C., Gonzalez-Fernandez F., Conway B. P., Heckenlively J., Palmer R., Maumenee I. H., Sieving P. Identification of novel rhodopsin mutations responsible for retinitis pigmentosa: implications for the structure and function of rhodopsin. Am J Hum Genet. 1993 Jul;53(1):80–89. [PMC free article] [PubMed] [Google Scholar]
- Macke J. P., Hennessey J. C., Nathans J. Rhodopsin mutation proline347-to-alanine in a family with autosomal dominant retinitis pigmentosa indicates an important role for proline at position 347. Hum Mol Genet. 1995 Apr;4(4):775–776. doi: 10.1093/hmg/4.4.775. [DOI] [PubMed] [Google Scholar]
- Marlhens F., Bareil C., Griffoin J. M., Zrenner E., Amalric P., Eliaou C., Liu S. Y., Harris E., Redmond T. M., Arnaud B. Mutations in RPE65 cause Leber's congenital amaurosis. Nat Genet. 1997 Oct;17(2):139–141. doi: 10.1038/ng1097-139. [DOI] [PubMed] [Google Scholar]
- Meins M., Grüning G., Blankenagel A., Krastel H., Reck B., Fuchs S., Schwinger E., Gal A. Heterozygous 'null allele' mutation in the human peripherin/RDS gene. Hum Mol Genet. 1993 Dec;2(12):2181–2182. doi: 10.1093/hmg/2.12.2181. [DOI] [PubMed] [Google Scholar]
- Milam A. H., Li Z. Y., Cideciyan A. V., Jacobson S. G. Clinicopathologic effects of the Q64ter rhodopsin mutation in retinitis pigmentosa. Invest Ophthalmol Vis Sci. 1996 Apr;37(5):753–765. [PubMed] [Google Scholar]
- Millán J. M., Fuchs S., Paricio N., Wedemann H., Gal A., Nájera C., Prieto F. Gly114Asp mutation of rhodopsin in autosomal dominant retinitis pigmentosa. Mol Cell Probes. 1995 Feb;9(1):67–69. doi: 10.1016/s0890-8508(95)91052-2. [DOI] [PubMed] [Google Scholar]
- Moore A. T., Fitzke F. W., Kemp C. M., Arden G. B., Keen T. J., Inglehearn C. F., Bhattacharya S. S., Bird A. C. Abnormal dark adaptation kinetics in autosomal dominant sector retinitis pigmentosa due to rod opsin mutation. Br J Ophthalmol. 1992 Aug;76(8):465–469. doi: 10.1136/bjo.76.8.465. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Naash M. I., Hollyfield J. G., al-Ubaidi M. R., Baehr W. Simulation of human autosomal dominant retinitis pigmentosa in transgenic mice expressing a mutated murine opsin gene. Proc Natl Acad Sci U S A. 1993 Jun 15;90(12):5499–5503. doi: 10.1073/pnas.90.12.5499. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Nakazawa M., Kikawa E., Kamio K., Chida Y., Shiono T., Tamai M. Ocular findings in patients with autosomal dominant retinitis pigmentosa and transversion mutation in codon 244 (Asn244Lys) of the peripherin/RDS gene. Arch Ophthalmol. 1994 Dec;112(12):1567–1573. doi: 10.1001/archopht.1994.01090240073028. [DOI] [PubMed] [Google Scholar]
- Newman N. J. Leber's hereditary optic neuropathy. New genetic considerations. Arch Neurol. 1993 May;50(5):540–548. doi: 10.1001/archneur.1993.00540050082021. [DOI] [PubMed] [Google Scholar]
- Ng P. C., Henikoff S. Predicting deleterious amino acid substitutions. Genome Res. 2001 May;11(5):863–874. doi: 10.1101/gr.176601. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Nystuen A., Benke P. J., Merren J., Stone E. M., Sheffield V. C. A cerebellar ataxia locus identified by DNA pooling to search for linkage disequilibrium in an isolated population from the Cayman Islands. Hum Mol Genet. 1996 Apr;5(4):525–531. doi: 10.1093/hmg/5.4.525. [DOI] [PubMed] [Google Scholar]
- Olsson J. E., Gordon J. W., Pawlyk B. S., Roof D., Hayes A., Molday R. S., Mukai S., Cowley G. S., Berson E. L., Dryja T. P. Transgenic mice with a rhodopsin mutation (Pro23His): a mouse model of autosomal dominant retinitis pigmentosa. Neuron. 1992 Nov;9(5):815–830. doi: 10.1016/0896-6273(92)90236-7. [DOI] [PubMed] [Google Scholar]
- Owens S. L., Fitzke F. W., Inglehearn C. F., Jay M., Keen T. J., Arden G. B., Bhattacharya S. S., Bird A. C. Ocular manifestations in autosomal dominant retinitis pigmentosa with a Lys-296-Glu rhodopsin mutation at the retinal binding site. Br J Ophthalmol. 1994 May;78(5):353–358. doi: 10.1136/bjo.78.5.353. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Palczewski K., Kumasaka T., Hori T., Behnke C. A., Motoshima H., Fox B. A., Le Trong I., Teller D. C., Okada T., Stenkamp R. E. Crystal structure of rhodopsin: A G protein-coupled receptor. Science. 2000 Aug 4;289(5480):739–745. doi: 10.1126/science.289.5480.739. [DOI] [PubMed] [Google Scholar]
- Pannarale M. R., Grammatico B., Iannaccone A., Forte R., DeBernardo C., Flagiello L., Vingolo E. M., Del Porto G. Autosomal-dominant retinitis pigmentosa associated with an Arg-135-Trp point mutation of the rhodopsin gene. Clinical features and longitudinal observations. Ophthalmology. 1996 Sep;103(9):1443–1452. doi: 10.1016/s0161-6420(96)30485-5. [DOI] [PubMed] [Google Scholar]
- Perrault I., Rozet J. M., Calvas P., Gerber S., Camuzat A., Dollfus H., Châtelin S., Souied E., Ghazi I., Leowski C. Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis. Nat Genet. 1996 Dec;14(4):461–464. doi: 10.1038/ng1296-461. [DOI] [PubMed] [Google Scholar]
- Petters R. M., Alexander C. A., Wells K. D., Collins E. B., Sommer J. R., Blanton M. R., Rojas G., Hao Y., Flowers W. L., Banin E. Genetically engineered large animal model for studying cone photoreceptor survival and degeneration in retinitis pigmentosa. Nat Biotechnol. 1997 Oct;15(10):965–970. doi: 10.1038/nbt1097-965. [DOI] [PubMed] [Google Scholar]
- Ponjavic V., Abrahamson M., Andréasson S., Ehinger B., Fex G., Polland W. A mild phenotype of autosomal dominant retinitis pigmentosa is associated with the rhodopsin mutation Pro-267-Leu. Ophthalmic Genet. 1997 Jun;18(2):63–70. [PubMed] [Google Scholar]
- Reeves Philip J., Kim Jong-Myoung, Khorana H. Gobind. Structure and function in rhodopsin: a tetracycline-inducible system in stable mammalian cell lines for high-level expression of opsin mutants. Proc Natl Acad Sci U S A. 2002 Oct 7;99(21):13413–13418. doi: 10.1073/pnas.212519199. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Reig C., Antich J., Gean E., Dante Heredia C., Valverde D., Baiget M., Carballo M. Identificación de la mutación Arg-135-Leu en el gen de la rodopsina en una familia con retinosis pigmentaria autosómica dominante. Med Clin (Barc) 1996 Feb 17;106(6):219–221. [PubMed] [Google Scholar]
- Reig C., Antich J., Gean E., Garcia-Sandoval B., Ramos C., Ayuso C., Carballo M. Identification of a novel rhodopsin mutation (Met-44-Thr) in a simplex case of retinitis pigmentosa. Hum Genet. 1994 Sep;94(3):283–286. doi: 10.1007/BF00208284. [DOI] [PubMed] [Google Scholar]
- Reig C., Llecha N., Antich J., Gean E., Tejada I., Molina M., Reventós J., Carballo M. A missense mutation (211His-->Arg) and a silent (160Thr) mutation within the rhodopsin gene in a spanish autosomal dominant retinitis pigmentosa family. Hum Mol Genet. 1994 Jan;3(1):195–196. doi: 10.1093/hmg/3.1.195. [DOI] [PubMed] [Google Scholar]
- Richards J. E., Scott K. M., Sieving P. A. Disruption of conserved rhodopsin disulfide bond by Cys187Tyr mutation causes early and severe autosomal dominant retinitis pigmentosa. Ophthalmology. 1995 Apr;102(4):669–677. doi: 10.1016/s0161-6420(95)30972-4. [DOI] [PubMed] [Google Scholar]
- Richards S. C., Creel D. J. Pattern dystrophy and retinitis pigmentosa caused by a peripherin/RDS mutation. Retina. 1995;15(1):68–72. doi: 10.1097/00006982-199515010-00013. [DOI] [PubMed] [Google Scholar]
- Rivolta Carlo, Sharon Dror, DeAngelis Margaret M., Dryja Thaddeus P. Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns. Hum Mol Genet. 2002 May 15;11(10):1219–1227. doi: 10.1093/hmg/11.10.1219. [DOI] [PubMed] [Google Scholar]
- Rosas D. J., Roman A. J., Weissbrod P., Macke J. P., Nathans J. Autosomal dominant retinitis pigmentosa in a large family: a clinical and molecular genetic study. Invest Ophthalmol Vis Sci. 1994 Jul;35(8):3134–3144. [PubMed] [Google Scholar]
- Rosenfeld P. J., Cowley G. S., McGee T. L., Sandberg M. A., Berson E. L., Dryja T. P. A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa. Nat Genet. 1992 Jun;1(3):209–213. doi: 10.1038/ng0692-209. [DOI] [PubMed] [Google Scholar]
- Rosenfeld P. J., Hahn L. B., Sandberg M. A., Dryja T. P., Berson E. L. Low incidence of retinitis pigmentosa among heterozygous carriers of a specific rhodopsin splice site mutation. Invest Ophthalmol Vis Sci. 1995 Oct;36(11):2186–2192. [PubMed] [Google Scholar]
- Saga M., Mashima Y., Akeo K., Oguchi Y., Kudoh J., Shimizu N. A novel Cys-214-Ser mutation in the peripherin/RDS gene in a Japanese family with autosomal dominant retinitis pigmentosa. Hum Genet. 1993 Nov;92(5):519–521. doi: 10.1007/BF00216463. [DOI] [PubMed] [Google Scholar]
- Sandberg M. A., Pawlyk B. S., Berson E. L. Acuity recovery and cone pigment regeneration after a bleach in patients with retinitis pigmentosa and rhodopsin mutations. Invest Ophthalmol Vis Sci. 1999 Sep;40(10):2457–2461. [PubMed] [Google Scholar]
- Simonelli F., Rinaldi M., Nesti A., Testa F., Rinaldi E., Ciccodicola A., Flagiello L., Miano M. G., Ventruto V., D'Urso M. Ocular signs associated with a rhodopsin mutation (Cys-167-->Arg) in a family with autosomal dominant retinitis pigmentosa. Br J Ophthalmol. 1998 Jun;82(6):709–709. doi: 10.1136/bjo.82.6.709. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Sohocki M. M., Bowne S. J., Sullivan L. S., Blackshaw S., Cepko C. L., Payne A. M., Bhattacharya S. S., Khaliq S., Qasim Mehdi S., Birch D. G. Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis. Nat Genet. 2000 Jan;24(1):79–83. doi: 10.1038/71732. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Sohocki M. M., Daiger S. P., Bowne S. J., Rodriquez J. A., Northrup H., Heckenlively J. R., Birch D. G., Mintz-Hittner H., Ruiz R. S., Lewis R. A. Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies. Hum Mutat. 2001;17(1):42–51. doi: 10.1002/1098-1004(2001)17:1<42::AID-HUMU5>3.0.CO;2-K. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Souied E. H., Rozet J. M., Gerber S., Dufier J. L., Soubrane G., Coscas G., Munnich A., Kaplan J. Two novel missense mutations in the peripherin/RDS gene in two unrelated French patients with autosomal dominant retinitis pigmentosa. Eur J Ophthalmol. 1998 Apr-Jun;8(2):98–101. doi: 10.1177/112067219800800208. [DOI] [PubMed] [Google Scholar]
- Souied E., Gerber S., Rozet J. M., Bonneau D., Dufier J. L., Ghazi I., Philip N., Soubrane G., Coscas G., Munnich A. Five novel missense mutations of the rhodopsin gene in autosomal dominant retinitis pigmentosa. Hum Mol Genet. 1994 Aug;3(8):1433–1434. doi: 10.1093/hmg/3.8.1433. [DOI] [PubMed] [Google Scholar]
- Souied E., Soubrane G., Benlian P., Coscas G. J., Gerber S., Munnich A., Kaplan J. Retinitis punctata albescens associated with the Arg135Trp mutation in the rhodopsin gene. Am J Ophthalmol. 1996 Jan;121(1):19–25. doi: 10.1016/s0002-9394(14)70530-6. [DOI] [PubMed] [Google Scholar]
- Stojanovic Aleksandar, Hwa John. Rhodopsin and retinitis pigmentosa: shedding light on structure and function. Receptors Channels. 2002;8(1):33–50. [PubMed] [Google Scholar]
- Stone E. M., Kimura A. E., Nichols B. E., Khadivi P., Fishman G. A., Sheffield V. C. Regional distribution of retinal degeneration in patients with the proline to histidine mutation in codon 23 of the rhodopsin gene. Ophthalmology. 1991 Dec;98(12):1806–1813. doi: 10.1016/s0161-6420(91)32046-3. [DOI] [PubMed] [Google Scholar]
- Stone E. M., Lotery A. J., Munier F. L., Héon E., Piguet B., Guymer R. H., Vandenburgh K., Cousin P., Nishimura D., Swiderski R. E. A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy. Nat Genet. 1999 Jun;22(2):199–202. doi: 10.1038/9722. [DOI] [PubMed] [Google Scholar]
- Stone E. M., Sheffield V. C., Hageman G. S. Molecular genetics of age-related macular degeneration. Hum Mol Genet. 2001 Oct 1;10(20):2285–2292. doi: 10.1093/hmg/10.20.2285. [DOI] [PubMed] [Google Scholar]
- Sullivan L. J., Makris G. S., Dickinson P., Mulhall L. E., Forrest S., Cotton R. G., Loughnan M. S. A new codon 15 rhodopsin gene mutation in autosomal dominant retinitis pigmentosa is associated with sectorial disease. Arch Ophthalmol. 1993 Nov;111(11):1512–1517. doi: 10.1001/archopht.1993.01090110078029. [DOI] [PubMed] [Google Scholar]
- Sung C. H., Davenport C. M., Hennessey J. C., Maumenee I. H., Jacobson S. G., Heckenlively J. R., Nowakowski R., Fishman G., Gouras P., Nathans J. Rhodopsin mutations in autosomal dominant retinitis pigmentosa. Proc Natl Acad Sci U S A. 1991 Aug 1;88(15):6481–6485. doi: 10.1073/pnas.88.15.6481. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Sunyaev S., Ramensky V., Koch I., Lathe W., 3rd, Kondrashov A. S., Bork P. Prediction of deleterious human alleles. Hum Mol Genet. 2001 Mar 15;10(6):591–597. doi: 10.1093/hmg/10.6.591. [DOI] [PubMed] [Google Scholar]
- Taanman J. W. The mitochondrial genome: structure, transcription, translation and replication. Biochim Biophys Acta. 1999 Feb 9;1410(2):103–123. doi: 10.1016/s0005-2728(98)00161-3. [DOI] [PubMed] [Google Scholar]
- Teller D. C., Okada T., Behnke C. A., Palczewski K., Stenkamp R. E. Advances in determination of a high-resolution three-dimensional structure of rhodopsin, a model of G-protein-coupled receptors (GPCRs). Biochemistry. 2001 Jul 3;40(26):7761–7772. doi: 10.1021/bi0155091. [DOI] [PMC free article] [PubMed] [Google Scholar]
- To K., Adamian M., Dryja T. P., Berson E. L. Retinal histopathology of an autopsy eye with advanced retinitis pigmentosa in a family with rhodopsin Glu181Lys. Am J Ophthalmol. 2000 Dec;130(6):790–792. doi: 10.1016/s0002-9394(00)00559-6. [DOI] [PubMed] [Google Scholar]
- To King, Adamian Michael, Dryja Thaddeus P., Berson Eliot L. Histopathologic study of variation in severity of retinitis pigmentosa due to the dominant rhodopsin mutation Pro23His. Am J Ophthalmol. 2002 Aug;134(2):290–293. doi: 10.1016/s0002-9394(02)01545-3. [DOI] [PubMed] [Google Scholar]
- Trujillo M. J., del Río T., Reig C., Benítez J., García Sandoval B., Carballo M., Ayuso C. Mutación Pro347Leu del gen de la rodopsina en una familia española con retinosis pigmentaria autosómica dominate. Med Clin (Barc) 1998 Apr 18;110(13):501–504. [PubMed] [Google Scholar]
- Vaithinathan R., Berson E. L., Dryja T. P. Further screening of the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa. Genomics. 1994 May 15;21(2):461–463. doi: 10.1006/geno.1994.1301. [DOI] [PubMed] [Google Scholar]
- Venter J. C., Adams M. D., Myers E. W., Li P. W., Mural R. J., Sutton G. G., Smith H. O., Yandell M., Evans C. A., Holt R. A. The sequence of the human genome. Science. 2001 Feb 16;291(5507):1304–1351. doi: 10.1126/science.1058040. [DOI] [PubMed] [Google Scholar]
- Vilela C., Beneyto M., Bosch R., Millan J. M., Marco M., Vallet M., Alonso L., Tormos I., Najera C., Valls B. Clinical and genetic aspects of two Spanish families with autosomal dominant retinitis pigmentosa (ADRP) Ophthalmic Genet. 1996 Mar;17(1):29–33. doi: 10.3109/13816819609057866. [DOI] [PubMed] [Google Scholar]
- Wallace D. C. 1994 William Allan Award Address. Mitochondrial DNA variation in human evolution, degenerative disease, and aging. Am J Hum Genet. 1995 Aug;57(2):201–223. [PMC free article] [PubMed] [Google Scholar]
- Webster A. R., Héon E., Lotery A. J., Vandenburgh K., Casavant T. L., Oh K. T., Beck G., Fishman G. A., Lam B. L., Levin A. An analysis of allelic variation in the ABCA4 gene. Invest Ophthalmol Vis Sci. 2001 May;42(6):1179–1189. [PubMed] [Google Scholar]
- Wells J., Wroblewski J., Keen J., Inglehearn C., Jubb C., Eckstein A., Jay M., Arden G., Bhattacharya S., Fitzke F. Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy. Nat Genet. 1993 Mar;3(3):213–218. doi: 10.1038/ng0393-213. [DOI] [PubMed] [Google Scholar]
- Wroblewski J. J., Wells J. A., 3rd, Eckstein A., Fitzke F. W., Jubb C., Keen T. J., Inglehearn C. F., Bhattacharya S. S., Arden G. B., Jay M. R. Ocular findings associated with a 3 base pair deletion in the peripherin-RDS gene in autosomal dominant retinitis pigmentosa. Br J Ophthalmol. 1994 Nov;78(11):831–836. doi: 10.1136/bjo.78.11.831. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Yang H., Luo C., Zhou J., Yan M., Chen D., Huang Q. [The study of RDS gene mutation and clinical phenotype in a family with primary retinitis pigmentosa]. Zhonghua Yan Ke Za Zhi. 2000 Jan;36(1):52-5, 6, 7. [PubMed] [Google Scholar]
- Zhang Xiaoli, Fu Weiling, Pang Chi-Pui, Yeung Kwun-Yan. [Screening for point mutations in rhodopsin gene among one hundred Chinese patients with retinitis pigmentosa]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2002 Dec;19(6):463–466. [PubMed] [Google Scholar]
- Zhao K., Xiong S., Wang L., Wang L., Cui Y., Wang Q. Novel rhodopsin mutation in a Chinese family with autosomal dominant retinitis pigmentosa. Ophthalmic Genet. 2001 Sep;22(3):155–162. doi: 10.1076/opge.22.3.155.2225. [DOI] [PubMed] [Google Scholar]
- al-Jandal N., Farrar G. J., Kiang A. S., Humphries M. M., Bannon N., Findlay J. B., Humphries P., Kenna P. F. A novel mutation within the rhodopsin gene (Thr-94-Ile) causing autosomal dominant congenital stationary night blindness. Hum Mutat. 1999;13(1):75–81. doi: 10.1002/(SICI)1098-1004(1999)13:1<75::AID-HUMU9>3.0.CO;2-4. [DOI] [PubMed] [Google Scholar]
- al-Maghtheh M., Inglehearn C., Lunt P., Jay M., Bird A., Bhattacharya S. Two new rhodopsin transversion mutations (L40R; M216K) in families with autosomal dominant retinitis pigmentosa. Hum Mutat. 1994;3(4):409–410. doi: 10.1002/humu.1380030417. [DOI] [PubMed] [Google Scholar]
- den Hollander A. I., ten Brink J. B., de Kok Y. J., van Soest S., van den Born L. I., van Driel M. A., van de Pol D. J., Payne A. M., Bhattacharya S. S., Kellner U. Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12). Nat Genet. 1999 Oct;23(2):217–221. doi: 10.1038/13848. [DOI] [PubMed] [Google Scholar]
- van den Born L. I., van Schooneveld M. J., de Jong L. A., Riemslag F. C., de Jong P. T., Gal A., Bleeker-Wagemakers E. M. Thr4Lys rhodopsin mutation is associated with autosomal dominant retinitis pigmentosa of the cone-rod type in a small Dutch family. Ophthalmic Genet. 1994 Jun;15(2):51–60. doi: 10.3109/13816819409098864. [DOI] [PubMed] [Google Scholar]