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学科主题临床医学
A Novel HSF4 Gene Mutation Causes Autosomal-Dominant Cataracts in a Chinese Family
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
2014-05-01
DOI10.1534/g3.113.009860
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
引用统计
被引频次:8[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/62735
专题北京大学第三临床医学院_眼科
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
推荐引用方式
GB/T 7714
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.
APA Lv, Huibin.,Huang, Chen.,Zhang, Jing.,Liu, Ziyuan.,Zhang, Zhike.,...&Wang, Wei.(2014).A Novel HSF4 Gene Mutation Causes Autosomal-Dominant Cataracts in a Chinese Family.G3-GENES GENOMES GENETICS,4(5),823-828.
MLA Lv, Huibin,et al."A Novel HSF4 Gene Mutation Causes Autosomal-Dominant Cataracts in a Chinese Family".G3-GENES GENOMES GENETICS 4.5(2014):823-828.
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