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

ConclusionsIn conclusion, we show that mutations inB3GALNT2 can give rise to a novel MDDG syndrome presentation, characterized by ID associated variably with seizure, but without any apparent muscular involvement. Importantly,B3GALNT2 activity does not fully correlate with the severity of the phenotype as assessed by the complementation assay.
Source: Genome Medicine - Category: Genetics & Stem Cells Source Type: research