Novel mutations in B3GALNT2 gene causing α-dystroglycanopathy in Chinese patients  

作　　者：Xiao-Yu Chen Dan-Yu Song Yan-Bin Fan Dan-Dan Tan Xing-Zhi Chang Jiang-Xi Xiao Tatsushi Toda Hui Xiong 

机构地区：[1]Department of Pediatrics,Peking University First Hospital,Beijing 100034,China [2]Department of Medical Imaging,Peking University First Hospital,Beijing 100034,China [3]Department of Neurology,Graduate School of Medicine,The University of Tokyo,Tokyo 113-8655,Japan

出　　处：《Chinese Medical Journal》2021年第12期1483-1485,共3页中华医学杂志（英文版）

基　　金：supported by the Development Program of China(No.2016YFC0901505);National Natural Science Foundation of China(No.81571220);Beijing Key Laboratory of Molecular Diagnosis and Study on Pediatric Genetic Diseases(No.BZ0317).

摘　　要：Alpha-dystroglycanopathy(α-DGP)is a subtype of congenital muscular dystrophies(CMDs)with autosomal recessive inheritance.Its main pathogenesis is the defect of post-translational O-glycosylation inα-dystroglycan(α-DG).α-DGP presents a wide clinical spectrum that ranges from the most severe CMDs such as Walker-Warburg syndrome(WWS),muscle-eye-brain disease(MEB),and Fukuyama congenital muscular dystrophy to the mildest limb-girdle muscular dystrophy.The B3GALNT2(NM 152490)is one of the pathogenic genes ofα-DGP.It encodes an enzyme that produces a unique carbohydrate structure,nitroacetylgalactosamine-β-1,3-nitroacetylglucosamine(GalNAc-β-1–3GlcNAc),which is essential for O-glycosylation ofα-DG.[1]Most patients with B3GALNT2 mutations in previous studies presented with the most severe WWS or less severe MEB[2]and those with WWS generally had a very short lifespan.They universally exhibited severe muscle weakness,ocular anomalies,including congenital cataract,glaucoma,severe myopia,and optic nerve atrophy.Their brain imaging showed cobblestone lissencephaly or polymicrogyria,cerebellum cysts,and dysplasia.

关 键 词：PATIENTS CONGENITAL MUSCULAR 

分 类 号：R746.2[医药卫生—神经病学与精神病学]