Novel HF4 Mutation Caue Congenital Total White Cataract in a Chinee Family Original Reearch Article

Purpoe To identify the dieae-cauing gene (mutation) in a Chinee family affected with autoomal dominant congenital total white cataract. Deign Obervational cae erie. Method Genotyping and linkage analye were ued to identify the linkage of the dieae-cauing gene in the Chinee family to the HF4 gene encoding a member of the family of heat hock trancription factor (HF). Direct DNA equence analyi wa ued to identify the dieae-cauing mutation. Polymerae chain reaction/retriction fragment length polymorphim analyi wa ued to demontrate coegregation of the HF4 mutation with the cataract and the abence of the mutation in the normal control. Reult The cataract gene in the Chinee family wa linked to marker D163043, and further haplotype analyi defined the cauative gene between D16515 and D16415 within which HF4 i located. A novel mutation c.221G>A wa identified in HF4, which reult in ubtitution of a highly conerved arginine reidue by hitidine at codon 74 (p.R74H). The R74H mutation coegregated with the affected individual in the family and did not exit in unaffected family member and 150 unrelated normal control. Concluion Thee reult identified a novel miene mutation R74H in the trancription factor gene HF4 in a Chinee cataract family and expand the pectrum of HF4 mutation cauing cataract.