Autosomal dominant retinitis pigmentosa in a five-generation pedigree in People's Republic of China
Teng, Y., Wang, W., Tian, H., Wang, H., Hu, X., Chen, Y. and Bittles, A.H. (2003) Autosomal dominant retinitis pigmentosa in a five-generation pedigree in People's Republic of China. Eye, 17 (9). pp. 1036-1039.
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The reported prevalence of retinitis pigmentosa (RP) in China is 25 per 100 000, which is similar to the rate of 19 1327 per 100 000 observed in Western countries. Genes causing RP have been identified by a combination of linkage mapping, cloning, and candidate testing. At present, close to 100 rhodopsin mutations have been identified in adRP patients and the existence of other adRP loci has been established. Genetic heterogeneity, allelic heterogeneity, and clinical heterogeneity have been demonstrated among patients with adRP, arRP, and X-linked patterns of inheritance. Digenic RP caused by the simultaneous presence of a mutation in the peripherin/RDS gene and a mutation in the Rom1 gene, and one family with RP involving mitochondrial inheritance, have also been described.
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|Publisher:||Nature Publishing Group|
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