Differential occurrence of mutations causative of eye diseases in the Chinese population

Abstract

Ethnic differences and geographic variations affect the frequencies and nature of human mutations. In the literature, descriptions of causative mutations of eye diseases in the Chinese population are few. In this paper we attempt to reveal molecular information on genetic eye diseases involving Chinese patients from published and unpublished works by us and other groups. Our studies on candidate genes of eye diseases in the Chinese population in Hong Kong include MYOC and TISR for primary open angle glaucoma, RHO and RP1 for retinitis pigmentosa, ABCA4 and APOE for age-related macular degeneration, RB1 for retinoblastoma, APC for familial adenomatous polyposis with congenital hypertrophy of retinal pigment epithelium, BIGH3/TGFBI for corneal dystrophies, PAX6 for aniridia and Reiger syndrome, CRYAA and CRYBB2 for cataracts, and mtDNA for Leber hereditary optic neuropathy. We have revealed novel mutations in most of these genes, and in RHO, RP1, RB1, BIGH3, and PAX6 we have reported mutations that contribute to better understanding of the functions and properties of the respective gene products. We showed absence of MYOC does not necessarily cause glaucoma. No disease causative mutations have been identified in MYOC or ABCA4. There are similarities in the patterns of sequence alterations and phenotype-genotype associations in comparison with other ethnic groups, while the MYOC, RB1, APC, and PAX6 genes have more Chinese-specific sequence alterations. Establishment of a mutation database specific for the Chinese is essential for identification of genetic markers with diagnostic, prognostic, or pharmacological values.

Perspective on Genes and Mutations Causing Retinitis Pigmentosa

“…Other ethnic and geographic groups have different fractions of disease-causing mutations. 42,43 Finally, these are the fractions of mutations detected in carefully designed studies with optimal methods; screening in practice may be less efficient.…”

Myocilin protein levels in the aqueous humor of the glaucomas in selected canine breeds

“…In contrast to the equal gender representation in humans with POAG, PCAG occurs much more frequently in females. In China, the ratio of PCAG affected women to men is estimated as high as 10 : 1 32 …”

Molecular epidemiology of mtDNA mutations in 903 Chinese families suspected with Leber hereditary optic neuropathy

“…MtDNA mutations in Chinese patients with LHON have been reported, but most of them were only involved in limited number of cases (Guo et al 2000;Pang and Lam 2002;Qian et al 2005;Yen et al 2002). Here, we report the molecular epidemiological analysis of the three most popular mtDNA mutations in 903 families with optic neuropathy.…”