A novel HSF4 gene mutation causes autosomal-dominant cataracts in a Chinese family.

ABSTRACT: Congenital cataracts are a significant cause of visual impairment or blindness in children. One-third of cases estimated to have a genetic cause. We carried out gene analysis and bioinformatics analysis to map the locus and to identify the underlying genetic defect in a 12-member, four-generation Chinese family affected with bilateral congenital cataracts. We screened individuals of the family and discovered a distinct missense mutation in HSF4 (a gene at this locus that encodes teat-shock transcription factor 4). Bioinformatics analysis was used to determine possible changes in the protein structure that could affect the phenotype. Sequencing of the candidate genes showed a heterozygous c.69 G→T change in the heat shock transcription factor 4 (HSF4) gene, which resulted in the substitutio

SUBMITTER: Lv H 

PROVIDER: S-EPMC4025481 | biostudies-literature | 2014 Mar

REPOSITORIES: biostudies-literature