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A G?T splice site mutation of CRYBA1/A3 associated with autosomal dominant suture cataracts in a Chinese family.

ABSTRACT: PURPOSE: To identify the genetic defect in a five-generation Chinese family with congenital Y-suture cataracts. METHODS: A five-generation Chinese family with inherited Y-suture cataract phenotype was recruited. Detailed family history and clinical data of the family were recorded. Candidate genes sequencing was performed to screen out the disease-causing mutation. RESULTS: The congenital cataract phenotype of the family was identified as Y-suture cataract type by using slit-lamp photography. Direct sequencing revealed a G?T splice site mutation in crystallin, beta A1 (CRYBA1/A3).This mutation co-segregated with all affected individuals in the family and was not found in unaffected family members or 100 unrelated controls. CONCLUSIONS: Our study identified a novel type of a splice site mutation in CRYBA1/A3 .The mutation was responsible for the congenital Y-suture cataracts in the family. This is the first report relating a G?T mutation of CRYBA1/A3 to congenital Y-suture cataract.

SUBMITTER: Yang Z 

PROVIDER: S-EPMC3156781 | biostudies-literature | 2011

REPOSITORIES: biostudies-literature

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A G→T splice site mutation of CRYBA1/A3 associated with autosomal dominant suture cataracts in a Chinese family.

Yang Zhenfei Z   Li Qian Q   Ma Zicheng Z   Guo Yuanyuan Y   Zhu Siquan S   Ma Xu X  

Molecular vision 20110805

<h4>Purpose</h4>To identify the genetic defect in a five-generation Chinese family with congenital Y-suture cataracts.<h4>Methods</h4>A five-generation Chinese family with inherited Y-suture cataract phenotype was recruited. Detailed family history and clinical data of the family were recorded. Candidate genes sequencing was performed to screen out the disease-causing mutation.<h4>Results</h4>The congenital cataract phenotype of the family was identified as Y-suture cataract type by using slit-l  ...[more]

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