Figure 1
(A, B) Pedigrees of the two families. Squares represent males, circles represent females, and black symbols indicate clinically affected individuals. (A) Family 1. IV-3: Patient 1; IV-6: Patient 2. (B) Family 2. IV-3: Patient 3. (C, D) Partial electropherograms show the OCLN variants in the two families. The NM_001205254.1:c.173_194del, p.(Trp58Phefs*10) variant detected in Family 1 (C) was homozygous in Patient 1 and Patient 2, but heterozygous in their mother and father. In Family 2 (D), Patient 3 was homozygous for the OCLN NM_001205254.1:c.199A>T, p.(Ile67Phe) variant, whereas the father, mother, and sister were heterozygous.