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

Journal article
Authors Carola Hedberg
Anders Oldfors
Niklas Darin
Published in European Journal of Human Genetics
Volume 22
Issue 5
Pages 707–710
ISSN 1018-4813
Publication year 2014
Published at Institute of Biomedicine, Department of Pathology
Institute of Clinical Sciences, Department of Pediatrics
Pages 707–710
Language en
Keywords B3GALNT2; α-dystroglycan; congenital muscular dystrophy; brain malformations
Subject categories Clinical Medicine, Neurology


Congenital muscular dystrophies associated with brain malformations are a group of disorders frequently associated with aberrant glycosylation of α-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 α-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 α-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 (β-1,3-N-acetylgalactosaminyltransferase 2; B3GalNAc-T2). This patient showed a milder phenotype than previously described patients with mutations in the B3GALNT2 gene.European Journal of Human Genetics advance online publication, 2 October 2013; doi:10.1038/ejhg.2013.223.

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