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. 2014 May 20;23(19):5283–5293. doi: 10.1093/hmg/ddu226

Figure 1.

Figure 1.

Rare CFH mutations segregate with AMD in families. (A) Pedigree of a family with AMD carrying the D90G mutation in CFH. (B) Pedigree of a large multigenerational family with AMD explained by the R53C mutation in CFH. Family members in the generation of the proband (arrow) and their descendants are displayed except for individuals not enrolled in the study including some unaffected individuals. Common antecedents are also displayed although deceased and not enrolled. Squares represent male and circles are female family members. Black symbols indicate affected persons and white symbols represent unaffected persons. Slashes indicate deceased family members. The genotype information of common risk SNPs in CFH and R53C or D90G mutation allele (in red) are shown below each genotyped individual. Blue star indicates a whole-exome sequenced sample. Red cross indicates individual with renal disease or low kidney function.