Fig. 1

Pedigrees of Patients with Mutation in the 3-box motif of the BACK domain of KLHL7. Pedigrees of all five patients with mutations in the 3-box motif of the BACK domain in KLHL7 were obtained and segregation analysis of the variants within the pedigrees was performed as obtainable. a Segregation of the variant in the family pedigree of P1 was seen in the proband and one affected brother and was not seen in one unaffected brother. b The variant identified in P2 was not identified on testing of the two unaffected children. c Segregation analysis was not possible in P3. d Family history in P4 was consistent with a dominant pattern of inheritance. e Segregation of the variant in the family pedigree of P5 suggested that the mutation developed de novo given the absence of the variant in both parents and three unaffected siblings