IGHMBP2基因新变异所致腓骨肌萎缩症2S型一例临床表型及遗传学分析并文献复习  

Clinical phenotype and genetic analysis of a case of Charcot Marie Tooth type 2S caused by a new mutation of IGHMBP2 gene and literature review

作　　者：路娜丹 李平 王玮琳 李远方 王叨[1] LU Nadan;LI Ping;WANG Weilin;LI Yuanfang;WANG Dao(Department of Pediatrics,the First Affiliated Hospital,Zhengzhou University,Zhengzhou 450052;Department of Pediatrics,Zhoukou Maternal and Child Health Hospital,Zhoukou,Henan 466000)

机构地区：[1]郑州大学第一附属医院儿科,郑州450052 [2]周口市妇幼保健院儿科,河南周口466000

出　　处：《郑州大学学报（医学版）》2024年第5期727-731,共5页Journal of Zhengzhou University(Medical Sciences)

摘　　要：目的:明确1例腓骨肌萎缩症(CMT)患儿的临床表型及遗传学病因。方法:对1例双下肢无力、双手呈抓物状的患儿行临床和实验室检查分析,并应用全外显子组(WES)测序对患儿行基因变异检测,采用Sanger测序对先证者及父母行家系基因变异验证。结果:先证者存在IGHMBP2基因的复合杂合变异,分别来源母亲c.1633-6T>G和父亲c.608C>A(p.A203E),均为新发变异,诊断为CMT 2S型。根据美国ACMG指南致病性分级,c.1633-6T>G(PM2)、c.608C>A(p.A203E)(PM2+PP3)均为意义不明性变异。结论:新发现的IGHMBP2基因c.1633-6T>G和c.608C>A(p.A203E)复合杂合变异是该CMT患儿肌无力及神经源性电生理损害可能的遗传学病因。Aim:To determine the clinical phenotype and genetic etiology of a child with Charcot-Marie-Tooth(CMT).Methods:Clinical and laboratory tests were performed on a child with weakness of both lower limbs and grasping hands,whole exome(WES)sequencing was used to detect genetic variation,and Sanger sequencing was used to verify the genetic variation of the proband and parents.Results:The proband had complex heterozygous variants in the IGHMBP2 gene,being derived from the mother c.1633-6T>G and the father c.608C>A(p.A203E),both were denovo variants and were diagnosed with CMT type 2S(CMT 2S).According to the pathogenicity classification of the United States ACMG guidelines,c.1633-6T>G(PM2)and c.608C>A(p.A203E)(PM2+PP3)were all variants of unclear significance.Conclusion:The newly discovered compound heterozygous variants of IGHMBP2 gene c.1633-6T>G and c.608C>A(p.A203E)are the possible genetic causes of muscle weakness and neurogenic electrophysiological damage in children with CMT.

关 键 词：腓骨肌萎缩症 IGHMBP2基因 肌电图 儿童 

分 类 号：R729[医药卫生—儿科]