GJB1 Gene Analysis in Two Extended Families with X-Linked Charcot-Marie-Tooth Disease

Sabine Kovale; Ruta Terauda; Elina Millere; Gita Taurina; Daiga Murmane; Jekaterina Isakova; Viktorija Kenina; Linda Gailite

doi:10.1159/000515170

GJB1 Gene Analysis in Two Extended Families with X-Linked Charcot-Marie-Tooth Disease

Case Rep Neurol. 2021 Jun 23;13(2):422-428. doi: 10.1159/000515170. eCollection 2021 May-Aug.

Authors

Sabine Kovale¹, Ruta Terauda¹, Elina Millere^{1

2}, Gita Taurina², Daiga Murmane², Jekaterina Isakova¹, Viktorija Kenina^{1

2}, Linda Gailite¹

Affiliations

¹ Scientific Laboratory of Molecular Genetics, Riga Stradins University, Riga, Latvia.
² Children's Clinical University Hospital, Riga, Latvia.

Abstract

X-linked Charcot-Marie-Tooth (CMT) disease type I (CMTX1) is the second most frequent type of CMT disease caused by pathogenic variants in the GJB1 gene. We described 2 extended cases (families) with CMTX1 with identified pathogenic variants - p.Val139Met and p.Arg215Trp. In both the families, neurological symptoms started earlier in male than in female patients. In some family members, molecular diagnostics was performed prior to neurological investigation due to family cascade screening. There was variable neurological phenotype representing CMT. Conclusions: There is a large clinical heterogeneity in CMTX, even amongst the family members.

Keywords: Charcot-Marie-Tooth disease; GJB1; X-linked Charcot-Marie-Tooth disease.

Publication types

Case Reports