B3GALNT2 is a gene associated with congenital muscular dystrophy with brain malformations
B3GALNT2 is a gene associated with congenital muscular dystrophy with brain malformations
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DOI：
10.1038/ejhg.2013.223
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发表时间：
2014-05-01
影响因子：
5.2
通讯作者：
Darin, Niklas
中科院分区：
文献类型：
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作者：
Hedberg, Carola;Oldfors, Anders;Darin, Niklas
与脑畸形相关的先天性肌营养不良症是一组通常与 α-肌营养不良聚糖异常糖基化相关的疾病。它们包括沃克-沃伯格综合征、肌眼脑疾病和各种其他临床表型等疾病实体。参与α-肌营养不良聚糖糖基化的不同基因与这些肌营养不良聚糖病相关。我们描述了一名 5 岁女孩，患有精神运动迟缓、共济失调、痉挛、肌肉无力和血清肌酸激酶水平升高。骨骼肌的免疫组织化学显示糖基化α-肌营养不良聚糖减少。 3.5 岁时的大脑磁共振成像显示，幕上和幕下白质、发育不全的脑桥和皮质下小脑囊肿的 T2 信号增加。通过全外显子组测序，该患者被鉴定为复合杂合子，基因 B3GALNT2（β-1,3-N-乙酰半乳糖氨基转移酶 2；B3GalNAc-T2）存在单碱基重复和错义突变。该患者表现出比之前描述的 B3GALNT2 基因突变患者更温和的表型。 2013 年 10 月 2 日在线发布
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