Pedigrees for families 1 and 2. a The affected proband (III:6), her affected brother (III:7) and mother (II:3), her two affected aunts (II:1 and II:2), and her four affected cousins (III:1, III:2, III:4, III:5) are shown along with their p.I314T variant status. b In family 2, the affected proband (II:1), his two unaffected parents (I:1 and I:2), and sibling (II:2) are shown along with the de novo variant p.T226R present in the proband. The square represents a male individual, a circle represents a female individual, and the arrow indicates the probands. Filled symbols represent clinically affected individuals