Genetic variations and clinical spectrum of dystroglycanopathy in a large cohort of Chinese patients,Clinical Genetics

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Genetic variations and clinical spectrum of dystroglycanopathy in a large cohort of Chinese patients
Clinical Genetics ( IF 2.9 ) Pub Date : 2020-11-16 , DOI: 10.1111/cge.13886
Danyu Song ₁ , Yi Dai ₂ , Xiaoyu Chen ₁ , Xiaona Fu ₁ , Xingzhi Chang ₁ , Ning Wang ₃ , Cheng Zhang ₄ , Chuanzhu Yan ₅ , Hong Zheng ₆ , Liwen Wu ₇ , Li Jiang ₈ , Ying Hua ₉ , Haipo Yang ₁ , Zhiqiang Wang ₃ , Tingjun Dai ₅ , Wenhua Zhu ₁₀ , Chunxi Han ₁₁ , Yun Yuan ₁₂ , Kazuhiro Kobayashi ₁₃ , Tatsushi Toda ₁₄ , Hui Xiong ₁

Affiliation

Department of Pediatrics, Peking University First Hospital, Beijing, China.
Department of Neurology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
Department of Neurology and Institute of Neurology, First Affiliated Hospital of Fujian Medical University, Fuzhou, China.
Department of Neurology, First Affiliated Hospital of Sun Yat-sen University, Guangzhou, China.
Department of Neurology, Qilu Hospital, Shandong University, Jinan, China.
Department of Pediatrics, the First Affiliated Hospital of Henan University of Chinese Medicine, Zhengzhou, China.
Department of Neurology, Hunan Children's Hospital, Changsha, China.
Department of Neurology, Children's Hospital of Chongqing Medical University, Chongqing, China.
Department of Neurology, Wuxi Children's Hospital, Wuxi, China.
Department of Neurology, Huashan Hospital, Fudan University, Shanghai, China.
Department of Neurology, Shenzhen Children's Hospital, Shenzhen, China.
Department of Neurology, Peking University First Hospital, Beijing, China.
Division of Neurology/Molecular Brain Science, Kobe University Graduate School of Medicine, Kobe, Japan.
Department of Neurology, Graduate School of Medicine, the University of Tokyo, Tokyo, Japan.

Dystroglycanopathy is a group of muscular dystrophies with deficient glycosylation of alpha‐dystroglycan (α‐DG). We recruited patients from 36 tertiary academic hospitals in China. In total, 143 patients with genetically diagnosed dystroglycanopathy were enrolled. Of these, limb girdle muscular dystrophy was the most common initial diagnosis (83 patients) and Walker‐Warburg syndrome was the least common (1 patient). In 143 patients, mutations in FKRP gene were the most prevalent (62 patients), followed by POMT2, POMT1 (16), POMGNT1, ISPD (14), FKTN, GMPPB, B3GALNT2, DPM3, and DAG1. Several frequent mutations were identified in FKRP, POMT1, POMGNT1, ISPD, and FKTN genes. Many of these were founder mutations. Patients with FKRP mutations tended to have milder phenotypes, while those with mutations in POMGNT1 genes had more severe phenotypes. Mental retardation was a clinical feature associated with mutations of POMT1 gene. Detailed clinical data of 83 patients followed up in Peking University First Hospital were further analyzed. Our clinical and genetic analysis of a large cohort of Chinese patients with dystroglycanopathy expanded the genotype variation and clinical spectrum of congenital muscular dystrophies.

更新日期：2020-11-16

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