2例肢带型肌营养不良患者的临床、病理学、基因学研究  

Clinical, pathological and genetic studies of 2 patients with limb-girdle muscular dystrophy

作　　者：杨百元 何度[3] 杨兴隆[4] 徐严明 YANG Baiyuan;HE Du;YANG Xinglong;XU Yanming(Department of Neurology, West China Hospital, Sichuan University, Chengdu 610041;Department of Neurology, Chengdu SeventhPeople’s Hospital, Chengdu 610041;Department of Pathology, West China Hospital, Sichuan University, Chengdu 610041;Department of Geriatric Neurology, First Affiliated Hospital of Kunming Medical University, Kunming 650032, China)

机构地区：[1]四川大学华西医院神经内科,成都610041 [2]成都市第七人民医院神经内科,成都610041 [3]四川大学华西医院病理科,成都610041 [4]昆明医科大学第一附属医院老年神经内科,昆明650032

出　　处：《临床与病理杂志》2018年第12期2724-2729,共6页Journal of Clinical and Pathological Research

基　　金：四川省科技厅应用基础研究(2014JY0247);云南省卫生单位内设研究机构科研项目(2018NS0102);昆明医科大学第一附属医院博士基金(2017BS005)~~

摘　　要：对2例肢带型肌营养不良(limb-girdle muscular dystrophy,LGMD)患者的临床特点进行分析,并进行相应的肌肉病理学检查,最后通过全外显子测序确定患者的致病基因。病例1进行了肌肉活检,结果支持Dysferlin病;并在其DYSF基因第50号外显子区域发现了c.5639G>A(p.G1880D),c.5246G>C(p.R1749P)2个杂合突变,进一步的验证发现2个突变分别来自于患者的母亲和父亲。在病例2的CAPN3基因上发现了2009C>A(p.A670E)纯合突变,进一步验证发现病例2的父母均携带该杂合突变。病例1诊断为LGMD2B,而病例2诊断为LGMD2A。对于LGMD患者,综合临床、病理学方法以及基因学方法能对疾病做出较为明确的诊断。The clinical features of 2 patients with limb-girdle muscular dystrophy (LGMD) were analyzed, and the corresponding muscle pathological examination was performed. Finally, the pathogenic genes were identified by whole exome sequencing. Patient 1 accepted muscle biopsy that supported Dysferlin’s disease. A composite heterozygous mutation of c.5639G>A (p.G1880D) and c.5246G>C (p.R1749P) was found in exon 50 of the DYSF gene in patient 1;further validation found that the two mutations were from the patient’s mother and father, respectively. A homozygous mutation of 2009C>A (p.A670E) in CAPN3 gene was found in patient 2, and it was further verified that the heterozygous mutation was carried by the parents of patient 2. The patient 1 was diagnosis as limb-type muscular dystrophy 2B, while the patient 2 was limb-type muscular dystrophy 2A. Comprehensive clinical, pathological, and genetic methods for LGMD patients can provide a more definitive diagnosis of the disease.

关 键 词：肢带型肌营养不良 全外显子测序 肌肉活检 

分 类 号：R746.2[医药卫生—神经病学与精神病学]