A Novel CRYBB2 Stopgain Mutation Causing Congenital Autosomal Dominant Cataract in a Chinese Family
Representative chromatogram of CRYBB2 sequence. (a) Sanger sequencing analysis of the affected and unaffected individuals in the ADCC Chinese family, showing a heterozygous mutation (c.499G>T) in exon 6 of CRYBB2 (black triangles). Moreover, this transition resulted in a stopgain mutation. (b) Multiple-sequence alignment in CRYBB2 from different species reveals that codon 167, where the mutation (p.E167X) occurred, is highly conserved (highlighted in red box).