4.5 Article

B3GALNT2 is a gene associated with congenital muscular dystrophy with brain malformations

Journal

EUROPEAN JOURNAL OF HUMAN GENETICS
Volume 22, Issue 5, Pages 707-710

Publisher

NATURE PUBLISHING GROUP
DOI: 10.1038/ejhg.2013.223

Keywords

B3GALNT2; alpha-dystroglycan; congenital muscular dystrophy; brain malformations

Funding

  1. Swedish Research Council [07122]

Ask authors/readers for more resources

Congenital muscular dystrophies associated with brain malformations are a group of disorders frequently associated with aberrant glycosylation of alpha-dystroglycan. They include disease entities such a Walker-Warburg syndrome, muscle-eye-brain disease and various other clinical phenotypes. Different genes involved in glycosylation of alpha-dystroglycan are associated with these dystroglycanopathies. We describe a 5-year-old girl with psychomotor retardation, ataxia, spasticity, muscle weakness and increased serum creatine kinase levels. Immunhistochemistry of skeletal muscle revealed reduced glycosylated alpha-dystroglycan. Magnetic resonance imaging of the brain at 3.5 years of age showed increased T2 signal from supratentorial and infratentorial white matter, a hypoplastic pons and subcortical cerebellar cysts. By whole exome sequencing, the patient was identified to be compound heterozygous for a one-base duplication and a missense mutation in the gene B3GALNT2 (beta-1,3-N-acetylgalactosaminyltransferase 2; B3GalNAc-T2). This patient showed a milder phenotype than previously described patients with mutations in the B3GALNT2 gene. published online 2 October 2013

Authors

I am an author on this paper
Click your name to claim this paper and add it to your profile.

Reviews

Primary Rating

4.5
Not enough ratings

Secondary Ratings

Novelty
-
Significance
-
Scientific rigor
-
Rate this paper

Recommended

No Data Available
No Data Available