Pedigree figures of CLCC1 mutation in the nine consanguineous families with genotypes of available individuals. The squares and the circles represent males and females, respectively. The black-filled symbols indicate patients with retinitis pigmentosa, and a symbol with a diagonal line indicates a deceased family member. The candidate variants are listed under each pedigree, and the genotypes of the individuals for the variants are marked below each symbol. The c.75C > A mutation is shown in the figure as NC_000001.11:g. 108950376G > T for consistency with the genomic description of the SNP in databases and in Figure 2. “T/T” indicates homozygous variant, “G/T” or “C/T” indicate heterozygous variants, and “G/G” or “C/C” indicates homozygous reference alleles for CLCC1 and CDH23, respectively. CDH23 alleles are shown for Family 61334 as individual five is affected on the basis of inheriting two variant alleles for CDH23 and is only heterozygous for the CLCC1 variant allele, while individual one in that family is homozygous for both variants. Linkage results and SNP haplotypes are shown in Li et al. (Li et al., 2018).

Haplotypes of the families and their derivation from the original risk haplotype, as shown by the compressed haplotype blocks labeled by the first SNP from the c.75C > A mutation (here shown in the figure as NC_000001.11:g. 108950376G > T for consistency with other SNPs). The original risk haplotype is shown in dark blue, and recombined haplotype blocks are shown in light blue. The mutation is shown in red and haplotypes in families 61328 and 61244 with the identical initial allele but part of a haplotype differing from those families 61224 (the founder haplotype) and 61030/61334 respectively are shown in gold.

Bar graph of estimated mutation ages from various haplotype blocks by the Goldstein and Risch methods. Data are taken from Table 2.

DMLE estimates of the mutation age assuming various rates of population growth.