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

路娜丹 ¹李平 ²王玮琳 ¹李远方 ¹王叨¹

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作者信息

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
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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.

Abstract

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 diag-nosed 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 discoveredcompoundheterozygousvariantsof IGHMBP2 genec.1633-6T>Gandc.608C>A(p.A203E)arethepos-sible 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

Key words

Charcot Marie Tooth/IGHMBP2 gene/electromyography/children

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出版年

2024

郑州大学学报(医学版)

郑州大学

郑州大学学报(医学版)

CSTPCD北大核心

影响因子：1.246

ISSN：1671-6825

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