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学科主题: 临床医学
题名:
A Novel HSF4 Gene Mutation Causes Autosomal-Dominant Cataracts in a Chinese Family
作者: Lv, Huibin1; Huang, Chen2; Zhang, Jing1; Liu, Ziyuan1; Zhang, Zhike1; Xu, Haining3; You, Yuchen1; Hu, Jinping1; Li, Xuemin1; Wang, Wei1
关键词: congenital cataract family ; HSF4
刊名: G3-GENES GENOMES GENETICS
发表日期: 2014-05-01
DOI: 10.1534/g3.113.009860
卷: 4, 期:5, 页:823-828
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Genetics & Heredity
研究领域[WOS]: Genetics & Heredity
关键词[WOS]: CONGENITAL NUCLEAR CATARACT ; SWISS-MODEL ; INFANTILE CATARACT ; INHERITED CATARACT ; PROTEIN ; LOCUS ; IDENTIFICATION ; HETEROGENEITY ; ENVIRONMENT ; CRYBB2
英文摘要:

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 GT change in the heat shock transcription factor 4 (HSF4) gene, which resulted in the substitution of a lysine with an asparagine (p. K23N). This mutation cosegregated with all affected individuals and was not observed in unaffected family members. Bioinformatics analysis indicated that the p. K23N mutation was predicted to be disease causing. This is the first report of the novel missense mutation, c.69 GT (p. K23N), in exon 3 of the HSF4 locus on 16q21-q22 associated with bilateral congenital cataracts in a Chinese family. This novel mutation could enable propergenetic diagnostics and counseling in affected families and could lead to a better understanding of the structure and function of HSF4 in health and disease.

语种: 英语
WOS记录号: WOS:000336483900007
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/62735
Appears in Collections:北京大学第三临床医学院_眼科_期刊论文

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作者单位: 1.Beijing Univ, Hosp 3, Dept Ophthalmol, Beijing 100191, Peoples R China
2.Beijing Univ, Hosp 3, Med Res Ctr, Beijing 100191, Peoples R China
3.WeiHaiWei Peoples Hosp, Dept Ophthalmol, Weihai 264200, Shandong, Peoples R China

Recommended Citation:
Lv, Huibin,Huang, Chen,Zhang, Jing,et al. A Novel HSF4 Gene Mutation Causes Autosomal-Dominant Cataracts in a Chinese Family[J]. G3-GENES GENOMES GENETICS,2014,4(5):823-828.
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