ArticleEye (London, England)2018
A novel missense mutation in HSF4 causes autosomal-dominant congenital lamellar cataract in a British family.
Article in Eye (London, England), 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 22 citations in OpenAlex.
- Candidate Genes for Non-Syndromic Pediatric Cataracts.Clinical ophthalmology (Auckland, N.Z.) · 2026Review
- Integration of variant annotations using deep set networks boosts rare variant association testing.Nature genetics · 2024Article
- Novel Mutations of PAX6 and WFS1 Associated With Congenital Cataract in a Chinese Family.Cureus · 2023Article
- Molecular Genetic Analysis of Ukrainian Families with Congenital Cataracts.Children (Basel, Switzerland) · 2022Article
- Review
- Pathogenic genetic variants identified in Australian families with paediatric cataract.BMJ open ophthalmology · 2022Article
- Missense mutation of a class B heat shock factor is responsible for the tomato bushy root-2 phenotype.Molecular horticulture · 2022Article
- Whole-exome sequencing identification of a recurrentExperimental and therapeutic medicine · 2021Article
- Sporadic zonular cataract found by scleral penetration.American journal of ophthalmology case reports · 2021Article
- Article
- 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
- Structural analysis of missense mutations occurring in the DNA-binding domain of HSF4 associated with congenital cataracts.Journal of structural biology: X · 2020Article
- GJA8 missense mutation disrupts hemichannels and induces cell apoptosis in human lens epithelial cells.Scientific reports · 2019Article
- Genetic landscape of isolated pediatric cataracts: extreme heterogeneity and variable inheritance patterns within genes.Human genetics · 2019Review
- Whole-genome sequencing reveals a recurrent missense mutation in the Connexin 46 (GJA3) gene causing autosomal-dominant lamellar cataract.Eye (London, England) · 2018Article
- Mutation update of transcription factor genes FOXE3, HSF4, MAF, and PITX3 causing cataracts and other developmental ocular defects.Human mutation · 2018Review
Corrections and comments
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Authors and funding
7 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
PurposeInherited cataract, opacification of the lens, is the most common worldwide cause of blindness in children. We aimed to identify the genetic cause of isolated autosomal-dominant lamellar cataract in a five-generation British family.MethodsWhole exome sequencing (WES) was performed on two affected individuals of the family and further validated by direct sequencing in family members.ResultsA novel missense mutation NM_001040667.2:c.190A>G;p.K64E was identified in the DNA-binding-domain of heat-shock transcription factor 4 (HSF4) and found to co-segregate with disease.ConclusionWe have identified a novel mutation in HSF4 in a large British pedigree causing dominant congenital lamellar cataract. This is the second mutation in this gene found in the British population. This mutation is likely to be dominant negative and affect the DNA-binding affinity of HSF4.
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