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. 1988 Feb;25(2):73–78. doi: 10.1136/jmg.25.2.73

Norrie disease resulting from a gene deletion: clinical features and DNA studies.

D Donnai 1, R C Mountford 1, A P Read 1
PMCID: PMC1015446  PMID: 3162283

Abstract

We describe a family in which two boys with Norrie disease have a deletion of the DXS7 locus. The deletion does not extend as far distally as the OTC or DXS84 loci. A full clinical description of the patients is given to help establish the range of manifestations of Norrie disease. There is no evidence of any other X linked disease in our patients.

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Selected References

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

  1. Feinberg A. P., Vogelstein B. A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity. Anal Biochem. 1983 Jul 1;132(1):6–13. doi: 10.1016/0003-2697(83)90418-9. [DOI] [PubMed] [Google Scholar]
  2. Francke U., Ochs H. D., de Martinville B., Giacalone J., Lindgren V., Distèche C., Pagon R. A., Hofker M. H., van Ommen G. J., Pearson P. L. Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome. Am J Hum Genet. 1985 Mar;37(2):250–267. [PMC free article] [PubMed] [Google Scholar]
  3. Gal A., Stolzenberger C., Wienker T., Wieacker P., Ropers H. H., Friedrich U., Bleeker-Wagemakers L., Pearson P., Warburg M. Norrie's disease: close linkage with genetic markers from the proximal short arm of the X chromosome. Clin Genet. 1985 Mar;27(3):282–283. doi: 10.1111/j.1399-0004.1985.tb00221.x. [DOI] [PubMed] [Google Scholar]
  4. Gal A., Wieringa B., Smeets D. F., Bleeker-Wagemakers L., Ropers H. H. Submicroscopic interstitial deletion of the X chromosome explains a complex genetic syndrome dominated by Norrie disease. Cytogenet Cell Genet. 1986;42(4):219–224. doi: 10.1159/000132282. [DOI] [PubMed] [Google Scholar]
  5. Goodfellow P. N., Davies K. E., Ropers H. H. Report of the Committee on the Genetic Constitution of the X and Y Chromosomes. Cytogenet Cell Genet. 1985;40(1-4):296–352. doi: 10.1159/000132178. [DOI] [PubMed] [Google Scholar]
  6. Hansen A. C. Norrie's disease. Am J Ophthalmol. 1968 Aug;66(2):328–332. doi: 10.1016/0002-9394(68)92083-7. [DOI] [PubMed] [Google Scholar]
  7. Kivlin J. D., Sanborn G. E., Wright E., Cannon L., Carey J. Further linkage data on Norrie disease. Am J Med Genet. 1987 Mar;26(3):733–736. doi: 10.1002/ajmg.1320260329. [DOI] [PubMed] [Google Scholar]
  8. Moreira-Filho C. A., Neustein I. A presumptive new variant of Norrie's disease. J Med Genet. 1979 Apr;16(2):125–128. doi: 10.1136/jmg.16.2.125. [DOI] [PMC free article] [PubMed] [Google Scholar]
  9. Townes P. L., Roca P. D. Norrie's disease (hereditary oculo-acoustic-cerebral degeneration). Report of a United States family. Am J Ophthalmol. 1973 Nov;76(5):797–803. doi: 10.1016/0002-9394(73)90580-1. [DOI] [PubMed] [Google Scholar]
  10. de la Chapelle A., Sankila E. M., Lindlöf M., Aula P., Norio R. Norrie disease caused by a gene deletion allowing carrier detection and prenatal diagnosis. Clin Genet. 1985 Oct;28(4):317–320. doi: 10.1111/j.1399-0004.1985.tb00405.x. [DOI] [PubMed] [Google Scholar]

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