Skip to main content
Fig. 1 | BMC Medical Genetics

Fig. 1

From: Homozygous variants in the HEXB and MBOAT7 genes underlie neurological diseases in consanguineous families

Fig. 1

a Pedigree of family 1, with two affected siblings with Sandhoff disease (filled symbols). Genotype is shown in red under individuals (+, mutant; āˆ’, WT). * indicates samples available for analysis. The affected female was shown to be homozygous for the HEXB c.445ā€‰+ā€‰1Gā€‰>ā€‰T splice site variant. b Electropherogram showing the DNA sequence variant (HEXB c.445ā€‰+ā€‰1Gā€‰>ā€‰T) 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; āˆ’, 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 study

Back to article page