ArticleBMC medical genetics2018
Novel mutations in HSF4 cause congenital cataracts in Chinese families.
Article in BMC medical genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 16 citations in OpenAlex.
- Lens tissue transcriptome analysis in patients with total congenital cataract.Human genomics · 2026Article
- A guide to heat shock factors as multifunctional transcriptional regulators.The FEBS journal · 2025Review
- Abnormal function ofInternational journal of ophthalmology · 2024Article
- Molecular Genetic Analysis of Ukrainian Families with Congenital Cataracts.Children (Basel, Switzerland) · 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
- Mutation analysis, treatment and prenatal diagnosis of Chinese cases of methylmalonic acidemia.Scientific reports · 2020Article
- Familial autosomal recessive bestrophinopathy: identification of a novel variant in BEST1 gene and the specific metabolomic profile.BMC medical genetics · 2020Article
- Mutation screening of crystallin genes in Chinese families with congenital cataracts.Molecular vision · 2019Article
- Autosomal recessive congenital cataracts linked to HSF4 in a consanguineous Pakistani family.PloS one · 2019Article
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Authors and funding
13 authors at 4 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundCongenital cataract, a kind of cataract presenting at birth or during early childhood, is a leading cause of childhood blindness. To date, more than 30 genes on different chromosomes are known to cause this disorder. This study aimed to identify the HSF4 mutations in a cohort from Chinese families affected with congenital cataracts.
methodsForty-two unrelated non-syndromic congenital cataract families and 112 ethnically matched controls from southeast China were recruited from the southeast of China. We employed Sanger sequencing method to discover the variants. To confirm the novel mutations, STR haplotypes were constructed to check the co-segregation with congenital cataract. The pathogenic potential of the novel mutations were assessed using bioinformatics tools including SIFT, Polyphen2, and Human Splicing Finder. The pathogenicity of all the mutations was evaluated by the guidelines of American College of Medical Genetics and InterVar software.
resultsNo previously reported HSF4 mutations were found in all the congenital cataract families. Five novel HSF4 mutations including c.187 T > C (p.Phe63Leu), c.218G > T (p.Arg73Leu), c.233A > G (p.Tyr78Cys), IVS5 c.233-1G > A and c.314G > C (p.Ser105Thr) were identified in five unrelated families with congenital cataracts, respectively. These mutations co-segregated with all affected individuals in each family were not observed in the unaffected family members or in 112 unrelated controls. All five mutations were categorized to be the disease "pathogenic" according to ACMG guidelines and using InterVar software. Mutations in the HSF4 were responsible for 11.90% Chinese families with congenital cataracts in our cohort.
conclusionsIn the study, we identified five novel HSF4 mutations in Chinese families with congenital cataracts. Our results expand the spectrum of HSF4 mutations causing congenital cataracts, which may be helpful for the molecular diagnosis of congenital cataracts in the era of precision medicine.
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