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 

作者机构：Department of PediatricsPeking University First HospitalBeijing 100034China Department of Medical ImagingPeking University First HospitalBeijing 100034China Department of NeurologyGraduate School of MedicineThe University of TokyoTokyo 113-8655Japan 

出 版 物：《Chinese Medical Journal》 (中华医学杂志（英文版）)

年 卷 期：2021年第134卷第12期

页      面：1483-1485页

核心收录：

学科分类：1002[医学-临床医学] 100204[医学-神经病学] 10[医学] 

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) 

主　　题：patients congenital muscular 

摘      要：Alpha-dystroglycanopathy(α-DGP)is a subtype of congenital muscular dystrophies(CMDs)with autosomal recessive *** 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 *** B3GALNT2(NM 152490)is one of the pathogenic genes ofα-*** 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 *** universally exhibited severe muscle weakness,ocular anomalies,including congenital cataract,glaucoma,severe myopia,and optic nerve *** brain imaging showed cobblestone lissencephaly or polymicrogyria,cerebellum cysts,and dysplasia.