X-linked Charcot-Marie-Tooth disease case with a novel missense mutation in GJB1 gene.
10.5734/JGM.2018.15.2.107
- Author:
Jong Mok LEE
1
;
Jin Hong SHIN
Author Information
1. Department of Neurology, Kyungpook National University Hospital, Daegu, Korea.
- Publication Type:Case Report
- Keywords:
Charcot-Marie-Tooth disease;
Connexins;
Central nervous system
- MeSH:
Adolescent;
Adult;
Central Nervous System;
Charcot-Marie-Tooth Disease*;
Connexins;
Demyelinating Diseases;
Exome;
Humans;
Leg;
Lower Extremity;
Muscle Weakness;
Mutation, Missense*;
Neural Conduction;
Paresis;
Polyneuropathies;
Quadriplegia;
Rare Diseases
- From:Journal of Genetic Medicine
2018;15(2):107-109
- CountryRepublic of Korea
- Language:English
-
Abstract:
X-linked Charcot-Marie-Tooth disease type 1 (CMTX1) is caused by the mutation in GJB1 gene, characterized by the transient central nervous system involvement and long standing peripheral polyneuropathy which does not fulfill the criteria of demyelination or axonopathy. We describe a 37-year-old man with progressive bilateral leg weakness since his early teen. He suffered transient right hemiparesis, followed by quadriparesis at 14 years of age. When we examined him at 37 years of age, he presented a distal muscle weakness on lower extremities with a sensory symptom. The nerve conduction study demonstrated a motor conduction velocity between 26 and 49 m/s. The whole exome sequencing revealed a novel variant c.136 G>A in GJB1. This report will raise awareness in this rare disease, which is frequently misdiagnosed early in its course.
