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Fig. 1 | Genome Medicine

Fig. 1

From: B3GALNT2 mutations associated with non-syndromic autosomal recessive intellectual disability reveal a lack of genotype–phenotype associations in the muscular dystrophy-dystroglycanopathies

Fig. 1

Genetic and biochemical analysis. a, b Pedigrees of the two families showing segregation of the mutated alleles within the families. The affected individuals are shown as black symbols and the gray symbol shows a 28-year-old individual with only borderline learning difficulty and attention deficit hyperactivity disorder without epilepsy. Mutant alleles shown by “+” and WT allele shown by “−.” c, e Sections of Sanger sequencing chromatograms for the mutations, heterozygous, and WT alleles are depicted and location of the alteration is demonstrated in the box. W wildtype, C carrier, P patient. d Immunohistochemistry of skeletal muscle of patient II-1 showed a minimal reduction of α-DG staining compared to a healthy control. α-DG staining was performed using the IIH6 antibody, recognizing the laminin-binding glycol-epitope. Spectrin and laminin staining were performed as control. f Schematic overview of the B3GALNT2 structure and the mutations identified in both families. The duplication leads to a premature stop codon (*), resulting in a truncated transcript lacking the galactosyltransferase domain. The missense mutations are located on exon 8 and cause substitution of a strongly conserved residue within the galactosyltransferase domain

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