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

被引:0
|
作者
Carola Hedberg
Anders Oldfors
Niklas Darin
机构
[1] University of Gothenburg,Department of Pathology
[2] Sahlgrenska University Hospital,Department of Pediatrics
[3] University of Gothenburg,undefined
[4] The Queen Silvia Children’s Hospital,undefined
[5] Sahlgrenska University Hospital,undefined
来源
European Journal of Human Genetics | 2014年 / 22卷
关键词
α-dystroglycan; congenital muscular dystrophy; brain malformations;
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学科分类号
摘要
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.
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页码:707 / 710
页数:3
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