Figure 1.

Pedigrees of adRP patients with PRPF31 mutations and co-segregation in available family members. Filled symbols represent affected, unfilled unaffected and dotted asymptomatic individuals. Question marks indicate that it is not clear whether the individual is affected or not. Squares depict males, circles females. Arrows mark the index patients. Equation symbols represent unaffected alleles. The identified mutations were abbreviated as followed: A = c.269_273del, B = c.527+2T>C, C = c.666dup, D = c.709_734dup, E = c.873_897dup and F = c.997delG.