Expansion of the phenotypic spectrum of X-linked Charcot-Marie-Tooth (CMT) disease

Qijie Yang; Xuewen Xiao; Zhenhua Yuan; Bin Jiao; Xinxin Liao; Juan Du

doi:10.1016/j.jocn.2020.01.029

Expansion of the phenotypic spectrum of X-linked Charcot-Marie-Tooth (CMT) disease

J Clin Neurosci. 2020 Mar:73:311-313. doi: 10.1016/j.jocn.2020.01.029. Epub 2020 Jan 24.

Authors

Qijie Yang¹, Xuewen Xiao¹, Zhenhua Yuan¹, Bin Jiao², Xinxin Liao³, Juan Du⁴

Affiliations

¹ Department of Neurology, Xiangya Hospital, Central South University, Changsha, China.
² Department of Neurology, Xiangya Hospital, Central South University, Changsha, China; National Clinical Research Center for Geriatric Disorders, Central South University, Changsha, China.
³ Department of Geriatrics Neurology, Xiangya Hospital, Central South University, Changsha, China; National Clinical Research Center for Geriatric Disorders, Central South University, Changsha, China.
⁴ Department of Neurology, Xiangya Hospital, Central South University, Changsha, China; National Clinical Research Center for Geriatric Disorders, Central South University, Changsha, China. Electronic address: [email protected].

PMID: 31987637
DOI: 10.1016/j.jocn.2020.01.029

Abstract

Charcot-Marie-Tooth (CMT) disease is the most common hereditary peripheral neuropathy. X-linked Charcot-Marie-Tooth disease in the GJB1 gene is known as CMTX1. We report a 14 years-old young man with walked unstably, bilateral strephenopodia, severe alopecia and paroxysmal bilateral upper limbs tremor without obvious muscle atrophy. Diagnostic whole-exome sequencing revealed a hemizygote missense mutation c.278 T > A in exon 2 of the GJB1 gene, with lysine at position 93 of the mature protein (p.M93K). This is the first CMT case with alopecia areata reported in the world.

Keywords: Alopecia areata; CMTX1; Case report; Tremor; X-linked Charcot-Marie-Tooth disease.

Publication types

Case Reports

MeSH terms

Adolescent
Charcot-Marie-Tooth Disease / diagnosis*
Charcot-Marie-Tooth Disease / genetics
Connexins / genetics*
Exome Sequencing
Gap Junction beta-1 Protein
Genetic Testing
Humans
Male
Mutation, Missense
Phenotype*

Substances

Connexins

Supplementary concepts

Charcot-Marie-Tooth disease, X-linked, 1