Figure 2.

Familiar pedigrees and mutations. (a) Electropherograms of patients and their unaffected parents. The altered bases are shown with asterisks and in red boxes. Green line = A; red line = T; black line = G; blue line = C. The sisters inherited the mutations on separate chromosomes, RAB3GAP1c.519>A, p.(Trp173Ter), from their father, and RAB3GAP1c.2486T>A, p.(Leu829Ter) from their mother (b) Family pedigree. Probands of first generation have heterozygous mutations on RAB3GAP1 gene and are unaffected. Probands of second generation inherited each of these mutations and are compound heterozygous mutants showing the pathologic phenotype. Black symbols = affected; white symbols = unaffected