假性肥大型肌营养不良患者的临床特点和基因突变情况  

Clinical characteristics and gene mutation in patients with pseudo hypertrophic muscular dystrophy

作　　者：彭慧芳 卢亚亚 张颖裕 娄丹[1] 姜宏卫[1,2] Peng Huifang;Lu Yaya;Zhang Yingyu;Lou Dan;Jiang Hongivei(The First Affiliated Hospital,and College of Clinical Medicine of Henan University of Science and Technology,Liioyang 471003,China;Luoyang City Clinical Research Center for Endocrinology and Metabolism,Luoyang 471003,China)

机构地区：[1]河南科技大学临床医学院,河南科技大学第一附属医院,洛阳471003 [2]洛阳市内分泌代谢病临床医学研究中心,471003

出　　处：《中国医师杂志》2020年第10期1501-1504,共4页Journal of Chinese Physician

基　　金：河南省中国科学院科技成果转移转化项目(2018105);河南省省直医疗机构服务能力提升工程建设项目(2017-51)。

摘　　要：目的分析假性肥大型肌营养不良临床特点以及基因突变情况,为基因诊断和遗传咨询提供依据。方法回顾性分析2018年3月至2019年3月在河南科技大学第一附属医院就诊的10例临床诊断为假性肥大型肌营养不良的患者,分析其临床特征并进行多重连接探针扩增技术(MLPA)检测,部分患者进行全外显子测序。结果临床诊断的10例患者经基因检测9例可确诊为假性肥大型肌营养不良.1例为肢带型肌萎缩;9例确诊患者男女比例&1;6例存在杜氏肌营养不良(DMD)基因外显子区域大片段缺失,3例为点突变。DMD基因3个可能点突变分别为c.10222delA、c.5697dupA、c.676_678del;结论症状典型但家系不符合X-连锁隐性遗传规律的患者仍要进行DMD遗传检测;MLPA检测阴性的患者,有必要进行全外显子检测;对于伴随智力发育落后的患者要注意避免误诊。Objective To analyze the clinical characteristics and gene detection methods of pseudohypertrophic muscular dystrophy,and to provide evidence for gene diagnosis and genetic counseling.Methods Ten patients with pseudohypertrophic muscular dystrophy diagnosed clinically in the First Affiliated Hospital of Henan University of Science and Technology from March 2018 to March 2019 were selected.The clinical features were analyzed and multiplex ligation probe amplification technique(MLPA)was detected,and exon sequencing was performed in some patients.Results Ten patients with clinical diagnosis were diagnosed as pseudohypertrophic muscular dystrophy in 9 cases and limb band muscular atrophy in I case.The ratio of male to female was 8:1 in 9 cases.Exon region large deletion of Duchenne muscular dystrophy(DMD)gene was found in 6 cases,and point new mutation in 3 cases.The three possible new mutations of DMD gene were c.10222del A,c.5697dupA、c.676_678del.Conclusions Patients with typical symptoms but inconsistent with X-linked recessive inheritance still need DMD genetic detecting;patients with negative MLPA testing need full exon sequencing;patients with mental retardation should pay attention to avoid misdiagnosis.

关 键 词：假性肥大型肌营养不良 多重连接探针扩增技术 序列分析 突变 

分 类 号：R746.2[医药卫生—神经病学与精神病学] R440[医药卫生—临床医学]