Article
Novel crystallin gamma B mutations in a Kuwaiti family with autosomal dominant congenital cataracts reveal genetic and clinical heterogeneity.
Molecular vision - 1 Jan 2012
AlFadhli Suad, Abdelmoaty Sidky, Al-Hajeri Amal, Behbehani Abdulmutalib, Alkuraya Fowzan
Abstract excerpt
PURPOSE: To explore the disease locus and causative mutation for autosomal dominant congenital cataracts (ADCC) in a Kuwaiti family. There were seven affected and three unaffected subjects in the family. METHODS: Whole-genome linkage analysis was performed using Gene Chip Human Mapping 250 K Arrays to identify regions of linkage. Potential genes within this region were cloned and sequenced to identify the...
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