Figure 1. Pedigrees of Families 1 and 2 with autosomal dominant congenital cataract and genotypes for markers flanking CRYBA1 in chromosomal region 17q11.2

Individuals included in the SNP genotyping of Family 1 are marked by an asterisk. Affected and presently unaffected members are indicated by filled and open symbols, respectively. The markers are listed from telomere to centromere and filled bars represent the affected haplotypes. In the two families the disease predisposition is linked to haplotypes with different genotypes suggesting that the mutations have occurred independently. Both families segregate a 3 bp deletion in exon 4 of CRYBA1 (MUT). WT refers to the corresponding normal allele.