Novel mutations in HSF4 cause congenital cataracts in Chinese families

BMC Medical Genetics
Zongfu CaoJuhua Yang

Abstract

Congenital 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. Forty-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. No 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 familie...Continue Reading

References

Jun 26, 2003·Nucleic Acids Research·Pauline C Ng, Steven Henikoff
Jul 28, 2004·Investigative Ophthalmology & Visual Science·Nizar SmaouiJ Fielding Hejtmancik
Oct 16, 2004·The EMBO Journal·Mitsuaki FujimotoAkira Nakai
Dec 14, 2004·Genesis : the Journal of Genetics and Development·Jin-Na MinNahid F Mivechi
Aug 1, 2006·American Journal of Ophthalmology·Tie KeMugen Liu
Feb 3, 2009·Investigative Ophthalmology & Visual Science·Lars HansenThomas Rosenberg
Apr 3, 2009·Nucleic Acids Research·François-Olivier DesmetChristophe Béroud
Apr 1, 2010·Nature Methods·Ivan A AdzhubeiShamil R Sunyaev
Jul 16, 2010·Nature Reviews. Molecular Cell Biology·Malin AkerfeltLea Sistonen
Jul 23, 2011·Arquivos brasileiros de oftalmologia·Alessandro Santana, Mauro Waiswo
Jan 5, 2014·European Journal of Medical Genetics·Hao Deng, Lamei Yuan
Mar 19, 2014·G3 : Genes - Genomes - Genetics·Huibin LvWei Wang
Mar 6, 2015·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Sue RichardsUNKNOWN ACMG Laboratory Quality Assurance Committee
Nov 20, 2015·Nucleic Acids Research·Melissa J LandrumDonna R Maglott
Jan 31, 2017·American Journal of Human Genetics·Quan Li, Kai Wang

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Methods Mentioned

BETA
PCR
genotyping
electrophoresis

Software Mentioned

Cyrillic
PolyPhen
GeneMarker
Sorting Intolerant Tolerant
InterVar
Swiss
Polymorphism Phenotyping PolyPhen
Human Splicing Finder
PdbViewer

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