Figure 2 KIAA1109 Pedigrees and Variants
(A) Pedigrees of the ten families carrying KIAA1109 variants. The affected individuals of the Lithuanian (LT), Singaporean (SG), British (UK), and American (US) families are compound heterozygotes for rare variants, whereas the probands of the Algerian (AL), Saudi Arabian (SA1–SA3), and Tunisian (TU1, TU2) consanguineous families are homozygous for KIAA1109 variants.
(B) Distribution of variants along the schematically represented 86 exons of KIAA1109. Missense variants are depicted in blue, nonsense in red, and the splice site variant in green. The extent of the deletion identified in the proband of the US family is indicated in black below.