title: A novel HSF4 mutation in a Chinese family with autosomal dominant congenital cataract.
abstract: This study was aimed to identify the mutation of the whole coding region of shock transcription factor 4 (HSF4) gene in a Chinese family with autosomal dominant congenital cataract (ADCC). All exons of HSF4 were amplified by PCR. Sequence analysis of PCR products was performed. Restriction fragment length polymorphism (RFLP) analysis was conducted to confirm the pathogenic mutation. The results showed that a C to T substitution occurred at nucleotide 331 in patients of this family, leading to the replacement of the amino acid arginine-111 with cysteine in exon 3. RFLP analysis showed that the amino acid change was co-segregated with all affected individuals. It was concluded that the new mutation of c.331C>T in HSF4 DNA may be responsible for the autosomal dominant congenital cataract in this family.
authors: College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, 430074, China.
authors: Ling
authors: L
authors: Liu
authors: College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, 430074, China.
authors: Qing
authors: Q
authors: Zhang
authors: College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, 430074, China.
authors: Lu-Xin
authors: LX
authors: Zhou
authors: College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, 430074, China. zh_tang@mail.hust.edu.cn.
authors: Zhao-Hui
authors: ZH
authors: Tang
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D002386:Cataract / Q000151:congenital* / Q000235:genetics; D002681:China; D017931:DNA Primers; D004268:DNA-Binding Proteins / Q000737:chemistry / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D000076249:Heat Shock Transcription Factors; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D017386:Sequence Homology, Amino Acid; D014157:Transcription Factors / Q000737:chemistry / Q000235:genetics*
chemical_list: D017931:DNA Primers; D004268:DNA-Binding Proteins; C102948:HSF4 protein, human; D000076249:Heat Shock Transcription Factors; D014157:Transcription Factors