HNRNPA1基因突变导致单纯性肌病的临床表型和基因型分析  

Analysis of clinical and gene mutation characteristics in patients of isolated myopathy caused by HNRNPA1 mutation

作　　者：刘月 丁远亮 徐峰 杨康 陈万金[1] 王志强[1] LIU Yue;DING YuanLiang;XU Feng;YANG Kang;CHEN WanJin;WANG ZhiQiang(Department of Neurology and Institute of Neurology of First Affiliated Hospital,Institute of Neuroscience,and Fujian Key Laboratory of Molecular Neurology,Fuzhou 350005,China)

机构地区：[1]福建医科大学附属第一医院神经内科,福建省神经病学研究所,福州350005

出　　处：《中国科学:生命科学》2025年第1期146-152,共7页Scientia Sinica(Vitae)

摘　　要：国内尚无关于HNRNPA1基因变异的研究报道.为分析HNRNPA1基因突变的临床及基因变异的特点.本研究收集2018年12月~2022年12月于福建医科大学附属第一医院就诊并经基因检测确诊为HNRNPA1基因突变相关遗传性肌病的两家系先证者及相关成员的临床资料、基因检测结果,并查阅相关文献,对既往报道的HNRNPA1基因突变相关患者的发病年龄、表型、基因检测结果进行总结.本组两家系共6例患者,均仅表现为单纯肌病表型,无骨骼、神经系统受累.同一家系内发病年龄、表型较一致,一个家系为中老年发病、表现为进行性下肢近端肌无力,基因检测证实患者HNRNPA1基因存在c.940G>A(p.D314N)杂合突变.另一个家系为青少年发病、上肢远端肌无力、进展十分缓慢,基因检测证实患者HNRNPA1基因存在c.1064-2A>G杂合突变.检索相关文献显示,国外仅报道十余例,患者临床表型多样.本研究结果表明,HNRNPA1基因突变相关疾病十分罕见且表型多样,基因检测是该疾病的主要确诊方法.China has no records of HNRNPA1 gene mutations.To analyze the clinical and genetic characteristics of HNRNPA1 gene mutations.The clinical and genetic data of the probands and related members of two pedigrees admitted to the Department of Neurology of First Affiliated Hospital of Fujian Medical University from December 2018 to December 2021 were collected.Clinical characteristics and genetic variation of patients reported in the literature with HNRNPA1 variant were collected.Six patients from the two pedigrees were observed with pure muscular phenotype in this group,absence of bone tissue/motor neuron involvement.One pedigree had late adultonset progressive myopathy with predominant lower limb weakness and genetic analysis confirmed a heterozygous mutation c.940G>A(p.D314N)in HNRNPA1 gene.Another pedigree had adolescence-onset slowly progressive myopathy with distal upper limb weakness and genetic analysis confirmed a heterozygous mutation c.1064-2A>G in HNRNPA1 gene.Searching the literature,a few patients have been reported abroad.HNRNPA1 gene mutations are linked to a variety of phenotypes.Our findings suggest that mutations in the HNRNPA1 gene are extremely rare and are linked to a variety of phenotypes.Genetic testing is the main diagnostic method for this disease.

关 键 词：肌病 遗传 HNRNPA1基因 

分 类 号：R746[医药卫生—神经病学与精神病学]