A Novel HSF4 Mutation in a Chinese Family with Autosomal Dominant Congenital Cataract

• Published in: Journal of Huazhong University of Science and Technology. Medical sciences Vol. 35; no. 2; pp. 316 - 318
• Main Author: 刘凌 张晴 周璐昕 唐朝晖
• Format: Journal Article
• Language: English
• Published: Heidelberg Huazhong University of Science and Technology 01.04.2015; College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan 430074, China
• Subjects: Amino Acid Sequence; Animals; Base Sequence; Cataract - congenital; Cataract - genetics; China; DNA Primers; DNA-Binding Proteins - chemistry; DNA-Binding Proteins - genetics; Female; Genes, Dominant; Heat Shock Transcription Factors; Humans; Male; Medicine; Medicine & Public Health; Molecular Sequence Data; Mutation; Pedigree; Polymerase Chain Reaction; Polymorphism, Restriction Fragment Length; Sequence Homology, Amino Acid; Transcription Factors - chemistry; Transcription Factors - genetics; 中国; 先天性; 家庭; 常染色体; 显性遗传; 白内障; 突变; 限制性片段长度多态性; heat shock protein transcription factor 4; mutation; restriction fragment length polymorphism; congenital cataract
• ISSN: 1672-0733; 1993-1352
• DOI: 10.1007/s11596-015-1430-5

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.