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

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 le...

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Published inJournal 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
LanguageEnglish
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
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ISSN1672-0733
1993-1352
DOI10.1007/s11596-015-1430-5

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Summary: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.
Bibliography:cataract mutation congenital arginine autosomal Mutation Family Restriction segregated pathogenic
Ling LIU , Qing ZHANG , Lu-xin ZHOU , Zhao-hui TANG （College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan 430074, China）
42-1679/R
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.
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ISSN:1672-0733
1993-1352
DOI:10.1007/s11596-015-1430-5