title: Identification of CYP4V2 mutation in 21 families and overview of mutation spectrum in Bietti crystalline corneoretinal dystrophy.
abstract: Bietti crystalline corneoretinal dystrophy (BCD, MIM 210370) is a common form of hereditary retinal degeneration in the Chinese population. BCD is caused by CYP4V2 mutations. Understanding the CYP4V2 mutational spectrum and associated phenotypes is of value for clinical practice. In this study, nine CYP4V2 mutations, including four novel ones (c.215-2A>G, c.761A>G, c.958C>T, and c.1169G>A), were detected in all 21 families with BCD. All patients with CYP4V2 mutations had phenotypes typical for BCD. As of now, 34 CYP4V2 mutations have been identified in 104 of 109 families (95.4%), affecting 204 of the 218 alleles (93.6%). Of the 34 mutations, c.802-8_810del17insGC, c.992A>C, and c.1091-2A>G are the most common mutations, accounting for 62.7%, 7.4%, and 6.4% of the 204 mutant alleles, respectively. The remaining 31 mutations were only detected in 1-6 alleles. Mutations in exons 7, 8, and 9 account for 83.3% of mutant alleles (64.7%, 9.3%, and 10.3%, respectively). Our results expand the mutation spectrum of CYP4V2 and demonstrate an overview of the CYP4V2 mutation spectrum and its frequency in families with BCD. BCD is a clinically and genetically homogenous disease.
authors.affiliation: State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, PR China.
authors.forename: Xueshan
authors.initials: X
authors.lastname: Xiao
authors.forename: Guiying
authors.initials: G
authors.lastname: Mai
authors.forename: Shiqiang
authors.initials: S
authors.lastname: Li
authors.forename: Xiangming
authors.initials: X
authors.lastname: Guo
authors.forename: Qingjiong
authors.initials: Q
authors.lastname: Zhang
mesh_terms: D000328:Adult; D000483:Alleles; D044466:Asian People / Q000235:genetics; D002681:China; D003317:Corneal Dystrophies, Hereditary / Q000235:genetics / Q000473:pathology; D003577:Cytochrome P-450 Enzyme System / Q000235:genetics*; D000072470:Cytochrome P450 Family 4; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D005654:Fundus Oculi; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D012164:Retinal Diseases / Q000235:genetics / Q000473:pathology; D055815:Young Adult
chemical_list: D003577:Cytochrome P-450 Enzyme System; C505357:CYP4V2 protein, human; D000072470:Cytochrome P450 Family 4