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• W2246149951 abstract "To identify the genetic defect in a five-generation Chinese family with congenital Y-suture cataracts.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.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.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." @default.
• W2246149951 created "2016-06-24" @default.
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• W2246149951 date "2011-01-01" @default.
• W2246149951 modified "2023-09-26" @default.
• W2246149951 title "A G→T splice site mutation of CRYBA1/A3 associated with autosomal dominant suture cataracts in a Chinese family." @default.
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• W2246149951 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3156781" @default.
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