Expanding the Phenotype of B3GALNT2-Related Disorders.
Erika D'haenensSarah VergultBjörn MentenAnnelies DheedeneR Frank KooyBert CallewaertPublished in: Genes (2022)
Dystroglycanopathies are a group of congenital muscular dystrophies (CMDs) that include a broad phenotypic spectrum ranging from late-onset limb-girdle muscular dystrophy to severe muscle-eye-brain disease, Walker-Warburg syndrome, and Fukuyama congenital muscular dystrophy. In addition to clinical heterogeneity, CMDs are characterized by genetic heterogeneity. To date, 18 genes have been associated with CMDs. One of them is B3GALNT2 , which encodes the β-1,3-N-acetylgalactosaminyltransferase 2 that glycosylates α-dystroglycan. In this study, using exome sequencing, we identify a homozygous frameshift variant in B3GALNT2 due to a mixed uniparental disomy of chromosome 1 in a 7-year-old girl with global developmental delay, severely delayed active language development, and autism spectrum disorder but without any symptoms of muscular dystrophy. In addition to this case, we also provide an overview of all previously reported cases, further expanding the phenotypic spectrum.
Keyphrases
- muscular dystrophy
- late onset
- autism spectrum disorder
- early onset
- single cell
- copy number
- duchenne muscular dystrophy
- genome wide
- intellectual disability
- attention deficit hyperactivity disorder
- skeletal muscle
- resting state
- white matter
- dna methylation
- resistance training
- gene expression
- functional connectivity
- physical activity
- sleep quality
- blood brain barrier