A nonsense mutation (W9X) in CRYAA causes autosomal recessive cataract in an inbred Jewish Persian family.

Abstract

A nonsense mutation in the CRYAA gene causes autosomal recessive cataract in one family. This constitutes the first description of the molecular defect underlying nonsyndromic autosomal recessive congenital cataract. That there was no linkage to this locus in another family provides evidence for genetic heterogeneity.