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A Chinese family with progressive childhood cataracts and IVS3+1G>A CRYBA3/A1 mutations.

ABSTRACT: PURPOSE: To characterize the disease-causing mutations in a Chinese family with progressive childhood cataracts. METHODS: Family history and clinical data were recorded. Direct gene sequencing together with multi-point linkage analysis using microsatellite markers flanking the gene was applied to identify the disease-causing mutation. RESULTS: Lens examination in the affected members revealed childhood cataracts along with progressive developing fetal nuclear lactescent cataracts with 'Y' sutural opacities, and also progressive developing peripheral cortical opacities. Direct gene sequencing showed a G>A transition at the donor splice site of intron 3 (IVS3+1 G>A) of the ?A1/A3-crystallin gene (CRYBA3/A1) in this Chinese autosomal dominant childhood cataract family, and the maximum heterogeneity logarithm of odds (HLOD) score obtained by multi-point analysis was detected at marker locus D17S1800 (HLOD=3.005; ?=1.000). CONCLUSIONS: To our knowledge, this is the first report of a phenotype of progressive nuclear and cortical cataracts related to the CRYBA3/A1 mutation IVS3+1 G>A. This finding expands the spectrum of cataract phenotypes caused by the IVS3+1 G>A mutation of CRYBA3/A1, confirms the phenotypic heterogeneity of this mutation and suggests the mechanism that influences the cataractogenesis in different ethnic backgrounds.

SUBMITTER: Zhu Y

PROVIDER: S-EPMC2994768 | biostudies-literature | 2010

REPOSITORIES: biostudies-literature

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A Chinese family with progressive childhood cataracts and IVS3+1G>A CRYBA3/A1 mutations.

Zhu Yanan Y Shentu Xingchao X Wang Wei W Li Jinyu J Jin Chongfei C Yao Ke K

Molecular vision 20101109

<h4>Purpose</h4>To characterize the disease-causing mutations in a Chinese family with progressive childhood cataracts.<h4>Methods</h4>Family history and clinical data were recorded. Direct gene sequencing together with multi-point linkage analysis using microsatellite markers flanking the gene was applied to identify the disease-causing mutation.<h4>Results</h4>Lens examination in the affected members revealed childhood cataracts along with progressive developing fetal nuclear lactescent catara ...[more]

PMID: 21139983

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Project description:BACKGROUND: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. METHODS: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. RESULTS: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 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. CONCLUSIONS:In 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.

Dataset Information

A Chinese family with progressive childhood cataracts and IVS3+1G>A CRYBA3/A1 mutations.

Publications

A Chinese family with progressive childhood cataracts and IVS3+1G>A CRYBA3/A1 mutations.

Similar Datasets

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