Figure 2.
Pedigrees of two families harbouring the RPGRORF15 c.3457T>A mutation and single-nucleotide polymorphism (SNP) analysis. (A)—family of Patient 1 (III-1), (B)—family of Patients 2 (II-1) and 3 (III-3). Probands from each family are marked with an arrow. Other living relatives were not affected; the mother of Patient 1 had mild myopia. (C)—Single-nucleotide polymorphism analysis comparing X-chromosome variants of Patient 1 (Family 1) and Patient 2 (Family 2) has been performed in order to inspect the possibility of a founder effect. The X-chromosomes differed in the majority of the segments, except in one where they involved the same hemizygous variants (enlarged segment at the bottom of the Figure). The findings suggest that the studied variant is being transmitted on the same haplotype and our patients could have inherited the variant from a shared ancestor.