Skip to main content
NCBI home page
American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 1998 May;62(5):1117–1122. doi: 10.1086/301841

Mapping of a congenital microcoria locus to 13q31-q32.

C Rouillac 1, O Roche 1, D Marchant 1, L Bachner 1, A Kobetz 1, P J Toulemont 1, C Orssaud 1, M Urvoy 1, S Odent 1, B Le Marec 1, M Abitbol 1, J L Dufier 1
PMCID: PMC1377098  PMID: 9545411

Abstract

Congenital microcoria is an autosomal dominant disorder characterized by a pupil with a diameter <2 mm. It is thought to be due to a maldevelopment of the dilator pupillae muscle of the iris, and it is associated with juvenile-onset glaucoma. A total genome search for the location of the congenital microcoria gene was launched in a single large family. We found linkage between the disease and markers located on 13q31-q32 (Zmax = 9.79; theta = 0). Haplotype analysis narrowed the linked region to an interval <8 cM between markers D13S1239 proximally and D13S1280 distally.

Full Text

The Full Text of this article is available as a PDF (266.2 KB).

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Agoston I., Gróf P. La miose congénitale et l'albinisme. Ophthalmologica. 1968;155(5):399–408. doi: 10.1159/000305323. [DOI] [PubMed] [Google Scholar]
  2. Bonaldo M. F., Yu M. T., Jelenc P., Brown S., Su L., Lawton L., Deaven L., Efstratiadis A., Warburton D., Soares M. B. Selection of cDNAs using chromosome-specific genomic clones: application to human chromosome 13. Hum Mol Genet. 1994 Sep;3(9):1663–1673. doi: 10.1093/hmg/3.9.1663. [DOI] [PubMed] [Google Scholar]
  3. Collod G., Babron M. C., Jondeau G., Coulon M., Weissenbach J., Dubourg O., Bourdarias J. P., Bonaïti-Pellié C., Junien C., Boileau C. A second locus for Marfan syndrome maps to chromosome 3p24.2-p25. Nat Genet. 1994 Nov;8(3):264–268. doi: 10.1038/ng1194-264. [DOI] [PMC free article] [PubMed] [Google Scholar]
  4. Cottingham R. W., Jr, Idury R. M., Schäffer A. A. Faster sequential genetic linkage computations. Am J Hum Genet. 1993 Jul;53(1):252–263. [PMC free article] [PubMed] [Google Scholar]
  5. Coulon G., Delbosc B., Jeffredo Y., Viennet G., Oppermann A., Royer J. La microcorie congénitale: une observation avec étude histopathologique. J Fr Ophtalmol. 1986;9(1):35–39. [PubMed] [Google Scholar]
  6. Dib C., Fauré S., Fizames C., Samson D., Drouot N., Vignal A., Millasseau P., Marc S., Hazan J., Seboun E. A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature. 1996 Mar 14;380(6570):152–154. doi: 10.1038/380152a0. [DOI] [PubMed] [Google Scholar]
  7. Gantz I., Muraoka A., Yang Y. K., Samuelson L. C., Zimmerman E. M., Cook H., Yamada T. Cloning and chromosomal localization of a gene (GPR18) encoding a novel seven transmembrane receptor highly expressed in spleen and testis. Genomics. 1997 Jun 15;42(3):462–466. doi: 10.1006/geno.1997.4752. [DOI] [PubMed] [Google Scholar]
  8. Holth S., Berner O. CONGENITAL MIOSIS OR PINHOLE PUPILS OWING TO DEVELOPMENTAL FAULTS OF THE DILATATOR MUSCLE. Br J Ophthalmol. 1923 Sep;7(9):401–419. doi: 10.1136/bjo.7.9.401. [DOI] [PMC free article] [PubMed] [Google Scholar]
  9. Héon E., Sheth B. P., Kalenak J. W., Sunden S. L., Streb L. M., Taylor C. M., Alward W. L., Sheffield V. C., Stone E. M. Linkage of autosomal dominant iris hypoplasia to the region of the Rieger syndrome locus (4q25). Hum Mol Genet. 1995 Aug;4(8):1435–1439. doi: 10.1093/hmg/4.8.1435. [DOI] [PubMed] [Google Scholar]
  10. Jordan T., Ebenezer N., Manners R., McGill J., Bhattacharya S. Familial glaucoma iridogoniodysplasia maps to a 6p25 region implicated in primary congenital glaucoma and iridogoniodysgenesis anomaly. Am J Hum Genet. 1997 Oct;61(4):882–888. doi: 10.1086/514874. [DOI] [PMC free article] [PubMed] [Google Scholar]
  11. Kennerknecht I., Klett C., Hameister H. Assignment of the human gene propionyl coenzyme A carboxylase, alpha-chain, (PCCA) to chromosome 13q32 by in situ hybridization. Genomics. 1992 Oct;14(2):550–551. doi: 10.1016/s0888-7543(05)80269-1. [DOI] [PubMed] [Google Scholar]
  12. Korth M. J., Edelhoff S., Disteche C. M., Katze M. G. Chromosomal assignment of the gene encoding the human 58-kDa inhibitor (PRKRI) of the interferon-induced dsRNA-activated protein kinase to chromosome 13q32. Genomics. 1996 Jan 15;31(2):238–239. doi: 10.1006/geno.1996.0038. [DOI] [PubMed] [Google Scholar]
  13. Lathrop G. M., Lalouel J. M. Easy calculations of lod scores and genetic risks on small computers. Am J Hum Genet. 1984 Mar;36(2):460–465. [PMC free article] [PubMed] [Google Scholar]
  14. Legius E., de Die-Smulders C. E., Verbraak F., Habex H., Decorte R., Marynen P., Fryns J. P., Cassiman J. J. Genetic heterogeneity in Rieger eye malformation. J Med Genet. 1994 Apr;31(4):340–341. doi: 10.1136/jmg.31.4.340. [DOI] [PMC free article] [PubMed] [Google Scholar]
  15. MORTON N. E. The detection and estimation of linkage between the genes for elliptocytosis and the Rh blood type. Am J Hum Genet. 1956 Jun;8(2):80–96. [PMC free article] [PubMed] [Google Scholar]
  16. Mazzeo V., Gaiba G., Rossi A. Hereditary cases of congenital microcoria and goniodysgenesis. Ophthalmic Paediatr Genet. 1986 Aug;7(2):121–125. doi: 10.3109/13816818609076120. [DOI] [PubMed] [Google Scholar]
  17. Mears A. J., Mirzayans F., Gould D. B., Pearce W. G., Walter M. A. Autosomal dominant iridogoniodysgenesis anomaly maps to 6p25. Am J Hum Genet. 1996 Dec;59(6):1321–1327. [PMC free article] [PubMed] [Google Scholar]
  18. O'Connell J. R., Weeks D. E. The VITESSE algorithm for rapid exact multilocus linkage analysis via genotype set-recoding and fuzzy inheritance. Nat Genet. 1995 Dec;11(4):402–408. doi: 10.1038/ng1295-402. [DOI] [PubMed] [Google Scholar]
  19. Phillips J. C., del Bono E. A., Haines J. L., Pralea A. M., Cohen J. S., Greff L. J., Wiggs J. L. A second locus for Rieger syndrome maps to chromosome 13q14. Am J Hum Genet. 1996 Sep;59(3):613–619. [PMC free article] [PubMed] [Google Scholar]
  20. Polomeno R. C., Milot J. Congenital miosis. Can J Ophthalmol. 1979 Jan;14(1):43–46. [PubMed] [Google Scholar]
  21. Sarfarazi M., Tsipouras P., Del Mastro R., Kilpatrick M., Farndon P., Boxer M., Bridges A., Boileau C., Junien C., Hayward C. A linkage map of 10 loci flanking the Marfan syndrome locus on 15q: results of an International Consortium study. J Med Genet. 1992 Feb;29(2):75–80. doi: 10.1136/jmg.29.2.75. [DOI] [PMC free article] [PubMed] [Google Scholar]
  22. Schuler G. D., Boguski M. S., Stewart E. A., Stein L. D., Gyapay G., Rice K., White R. E., Rodriguez-Tomé P., Aggarwal A., Bajorek E. A gene map of the human genome. Science. 1996 Oct 25;274(5287):540–546. [PubMed] [Google Scholar]
  23. Sheffield V. C., Stone E. M., Alward W. L., Drack A. V., Johnson A. T., Streb L. M., Nichols B. E. Genetic linkage of familial open angle glaucoma to chromosome 1q21-q31. Nat Genet. 1993 May;4(1):47–50. doi: 10.1038/ng0593-47. [DOI] [PubMed] [Google Scholar]
  24. Shields M. B. Axenfeld-Rieger syndrome: a theory of mechanism and distinctions from the iridocorneal endothelial syndrome. Trans Am Ophthalmol Soc. 1983;81:736–784. [PMC free article] [PubMed] [Google Scholar]
  25. Simpson W. A., Parsons M. A. The ultrastructural pathological features of congenital microcoria. A case report. Arch Ophthalmol. 1989 Jan;107(1):99–102. doi: 10.1001/archopht.1989.01070010101036. [DOI] [PubMed] [Google Scholar]
  26. Steel K. P., Davidson D. R., Jackson I. J. TRP-2/DT, a new early melanoblast marker, shows that steel growth factor (c-kit ligand) is a survival factor. Development. 1992 Aug;115(4):1111–1119. doi: 10.1242/dev.115.4.1111. [DOI] [PubMed] [Google Scholar]
  27. Sturm R. A., Baker E., Sutherland G. R. Assignment of the tyrosinase-related protein-2 gene (TYRP2) to human chromosome 13q31-q32 by fluorescence in situ hybridization: extended synteny with mouse chromosome 14. Genomics. 1994 May 1;21(1):293–296. doi: 10.1006/geno.1994.1266. [DOI] [PubMed] [Google Scholar]
  28. Takahashi E., Shiomi N., Shiomi T. Precise localization of the excision repair gene, ERCC5, to human chromosome 13q32.3-q33.1 by direct R-banding fluorescence in situ hybridization. Jpn J Cancer Res. 1992 Nov;83(11):1117–1119. doi: 10.1111/j.1349-7006.1992.tb02731.x. [DOI] [PMC free article] [PubMed] [Google Scholar]
  29. Tawara A., Inomata H. Familial cases of congenital microcoria associated with late onset congenital glaucoma and goniodysgenesis. Jpn J Ophthalmol. 1983;27(1):63–72. [PubMed] [Google Scholar]
  30. Toulemont P. J., Urvoy M., Coscas G., Lecallonnec A., Cuvilliers A. F. Association of congenital microcoria with myopia and glaucoma. A study of 23 patients with congenital microcoria. Ophthalmology. 1995 Feb;102(2):193–198. doi: 10.1016/s0161-6420(95)31036-6. [DOI] [PubMed] [Google Scholar]

Articles from American Journal of Human Genetics are provided here courtesy of American Society of Human Genetics

RESOURCES