ArticleG3 (Bethesda, Md.)2014
A novel HSF4 gene mutation causes autosomal-dominant cataracts in a Chinese family.
Article in G3 (Bethesda, Md.), 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed.
- Candidate Genes for Non-Syndromic Pediatric Cataracts.Clinical ophthalmology (Auckland, N.Z.) · 2026Review
- Molecular Genetic Analysis of Ukrainian Families with Congenital Cataracts.Children (Basel, Switzerland) · 2022Article
- Missense mutation of a class B heat shock factor is responsible for the tomato bushy root-2 phenotype.Molecular horticulture · 2022Article
- More Than Meets the Eye: Revisiting the Roles of Heat Shock Factor 4 in Health and Diseases.Biomolecules · 2021Review
- A novel missense mutation in the HSF4 gene of giant pandas with senile congenital cataracts.Scientific reports · 2021Article
- Review
- Genetic landscape of isolated pediatric cataracts: extreme heterogeneity and variable inheritance patterns within genes.Human genetics · 2019Review
- Novel mutations in HSF4 cause congenital cataracts in Chinese families.BMC medical genetics · 2018Article
- Mutation update of transcription factor genes FOXE3, HSF4, MAF, and PITX3 causing cataracts and other developmental ocular defects.Human mutation · 2018Review
- A novel missense mutation in HSF4 causes autosomal-dominant congenital lamellar cataract in a British family.Eye (London, England) · 2018Article
- Bioinformatics analysis of microarray data to explore the key genes involved inInternational journal of ophthalmology · 2018Article
- Inherited Congenital Cataract: A Guide to Suspect the Genetic Etiology in the Cataract Genesis.Molecular syndromology · 2017Review
- A novel homozygous mutation in HSF4 causing autosomal recessive congenital cataract.Journal of human genetics · 2016Article
- Screening of potential target genes for cataract by analyzing mRNA expression profile of mouse Hsf4-null lens.BMC ophthalmology · 2015Article
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Authors and funding
10 authors.
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Abstract
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 G→T 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 G→T (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.
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