Figure 1. Pedigree and mutation analysis. A: Shown is a consanguineous Israeli Christian Arab family segregating arCRD (family TB127). Filled symbols represent affected
individuals, whereas clear symbols represent unaffected individuals. Genotypes of family members at the CDHR1 gene are indicated. m, mutant allele; +, wt allele. B: Nucleotide sequence traces of the boundary between the CDHR1 exon and Intron 13 in a non-carrier individual (wt) and an affected individual homozygote for the c.1485+2T>G: mutant allele (mut). The exon-intron boundary is marked.