CRYGD gene analysis in a family with autosomal dominant congenital cataract: evidence for molecular homogeneity and intrafamilial clinical heterogeneity in aculeiform cataract.

Abstract excerpt

PURPOSE: To present a previously unreported four generation affected Mexican pedigree with congenital hereditary aculeiform cataract caused by a mutation in the gammaD-crystallin (CRYGD) gene. METHODS: A four generation family with 14 available members of whom 8 were affected was analyzed. Interventions included complete ophthalmological examination, cataract phenotype characterization, PCR amplification, and...

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