[A case of Charcot-Marie-Tooth disease type 2S caused by mutation of IGHMBP2 gene]

M J Xiao; X Li; L F Li; Z H Xie; Y D Zhang; C Zhang; D X Li; J T Wang

doi:10.3760/cma.j.cn112140-20210825-00701

[A case of Charcot-Marie-Tooth disease type 2S caused by mutation of IGHMBP2 gene]

Zhonghua Er Ke Za Zhi. 2022 Jan 2;60(1):62-63. doi: 10.3760/cma.j.cn112140-20210825-00701.

[Article in Chinese]

Authors

M J Xiao¹, X Li¹, L F Li¹, Z H Xie¹, Y D Zhang¹, C Zhang², D X Li¹, J T Wang³

Affiliations

¹ Henan Key Laboratory of Children's Genetics and Metabolic Diseases,Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital, Zhengzhou Children's Hospital, Zhengzhou 450003, China.
² Department of Neurology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou 450000, China.
³ Neonatal Diagnosis and Treatment Center,Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital, Zhengzhou Children's Hospital, Zhengzhou 450003, China.

PMID: 34986626
DOI: 10.3760/cma.j.cn112140-20210825-00701

Abstract

患儿男，6岁4月龄，因“右下肢跛行5年”于2018年2月就诊于郑州大学附属儿童医院康复医学科。主要临床表现为双下肢无力，右侧显著。腓肠肌肌张力增高，跟腱反射未引出，胸部CT平扫示胸椎侧弯畸形，肌电图示双下肢及右上肢被检神经及肌肉呈神经源性损伤。基因检测示IGHMBP2基因存在c.1202A>G（p.His401Arg）与c.1693G>A（p.Asp565Asn）2个杂合错义变异，属于复合杂合变异。诊断为腓骨肌萎缩症2S型。.

Publication types

Case Reports

MeSH terms

Charcot-Marie-Tooth Disease* / genetics
DNA-Binding Proteins / genetics
Humans
Mutation
Transcription Factors / genetics

Substances

DNA-Binding Proteins
IGHMBP2 protein, human
Transcription Factors