J Genet Med.  2018 Dec;15(2):107-109. 10.5734/JGM.2018.15.2.107.

X-linked Charcot-Marie-Tooth disease case with a novel missense mutation in GJB1 gene

• Lee JM
• Shin JH

• KMID: 2435951
• DOI: http://doi.org/10.5734/JGM.2018.15.2.107

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.

Keyword

Charcot-Marie-Tooth disease; Connexins; Central nervous system

MeSH Terms

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
Connexins