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. 2015 Sep 16;27(5):1305–1311. doi: 10.1681/ASN.2015050580

Figure 1.

Figure 1.

Patients and relatives carrying the FH-R1210C mutation. (A) Thirteen aHUS patients and 1 C3G patient carrying the R1210C mutation identified in the Spanish and Italian cohorts are listed together with 13 healthy first-degree relatives who also carry the mutation. Also shown are 8 AMD members and 14 healthy members of the two R1210C pedigrees that we identified in the AMD Spanish cohort. Age, disease status, results of the ophthalmologic examination, and the overall genetic risks for aHUS and AMD (see the Concise Methods and Supplemental Figure 1) are provided for all individuals. (B) AMD pedigrees segregating the FH-R1210C mutation. Schematic representation of the two pedigrees identified in the AMD Spanish cohort is provided. Notice that in these pedigrees, in addition to healthy carriers of the FH R1210C mutation, there are also individuals who develop AMD and do not carry the FH-R1210C mutation. Numbers identify the individual in the pedigree and their age (italics). R1210C are identified with a star. Fund. ex., fundus examination.