Fig. 1From: Homozygous variants in the HEXB and MBOAT7 genes underlie neurological diseases in consanguineous familiesa Pedigree of family 1, with two affected siblings with Sandhoff disease (filled symbols). Genotype is shown in red under individuals (+, mutant; ā, WT). * indicates samples available for analysis. The affected female was shown to be homozygous for the HEXB c.445ā+ā1Gā>āT splice site variant. b Electropherogram showing the DNA sequence variant (HEXB c.445ā+ā1Gā>āT) in a homozygous affected individual. c Schematic representation of HEXB exons and position of the genomic variant identified in this study. d-e Pedigrees of families 2 and 3, both from the Khyber Pakhtunkhwa province and with individuals affected with a neurodevelopmental disorder (filled symbols), within the same generation. Genotype is shown in red under individuals (+, mutant; ā, WT). * indicates samples available for analysis. Six affected individuals were shown to be homozygous for the MBOAT7 c.758_778del; p.(Glu253_Ala259del) variant (f) Electropherogram showing the DNA sequence variant (MBOAT7 c.758_778del; p.(Glu253_Ala259del) in a homozygous affected individual (g) Schematic representation of MBOAT7 exons and positions of the genomic variant identified in this studyBack to article page