A novel mutation c.160 C＞T (p.R54C) in CRYAA in a Chinese family with congenital cataracts

Objective To identify the genetic defect in a Chinese family with congenital cataracts.Methods It was a investigative study.The detailed family history and clinical data of the family were recorded.After informed consent was obtained,genomic DNA was extracted from the venous blood of the family members and 100 normal controls.Candidate gene sequencing was performed to screen out disease-causing mutations.Bioinformatics analysis was performed by polymorphism phenotyping (PolyPhen-2).The result indicated that the 54th amino acid position was highly conserved.Results In this study,a mutation (c.160 C＞T transversion) was detected in the CRYAA gene.This mutation resulted in the substitution of highly conserved arginine by cysteine at codon 54 (p.R54C).The causative mutation was found in the patients only; the rest of the family members were without incident and were unaffected.Conclusion In this study,we identified a novel mutation c.160 C＞T (p.R54C) in CRYAA in a Chinese family with congenital cataract. Key words: Congenital cataract;  Pedigree ;  CRYAA