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

Sabine Kovale, Ruta Terauda, Elina Millere, Gita Taurina, Daiga Murmane, Jekaterina Isakova, Viktorija Kenina, Linda Gailite (Corresponding Author)

Scientific Laboratory of Molecular Genetics

Research output: Contribution to journal › Article › peer-review

1 Citation (Scopus)

8 Downloads (Pure)

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.

Original language	English
Pages (from-to)	422-428
Number of pages	7
Journal	Case Reports in Neurology
Volume	13
Issue number	2
DOIs	https://doi.org/10.1159/000515170
Publication status	Published - 23 Jun 2021

Keywords*

Charcot-Marie-Tooth disease
GJB1
X-linked Charcot-Marie-Tooth disease

Field of Science*

3.2 Clinical medicine

Publication Type*

1.1. Scientific article indexed in Web of Science and/or Scopus database

Access to Document

10.1159/000515170Licence: CC BY-NC

GJB1 Gene Analysis in Two Extended Families with X-Linked Charcot-Marie-Tooth DiseaseFinal published version, 428 KBLicence: CC BY-NC

Cite this

@article{501418d3fbdf4526b2f13c8f23f2ef42,

title = "GJB1 Gene Analysis in Two Extended Families with X-Linked Charcot-Marie-Tooth Disease",

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",

author = "Sabine Kovale and Ruta Terauda and Elina Millere and Gita Taurina and Daiga Murmane and Jekaterina Isakova and Viktorija Kenina and Linda Gailite",

note = "Funding Information: The study was carried out using the internal research grant in Riga Stradins University. Publisher Copyright: {\textcopyright} 2021 The Author(s). Published by S. Karger AG, Basel.",

year = "2021",

month = jun,

day = "23",

doi = "10.1159/000515170",

language = "English",

volume = "13",

pages = "422--428",

journal = "Case Reports in Neurology",

issn = "1662-680X",

publisher = "S. Karger AG",

number = "2",

}

TY - JOUR

T1 - GJB1 Gene Analysis in Two Extended Families with X-Linked Charcot-Marie-Tooth Disease

AU - Kovale, Sabine

AU - Terauda, Ruta

AU - Millere, Elina

AU - Taurina, Gita

AU - Murmane, Daiga

AU - Isakova, Jekaterina

AU - Kenina, Viktorija

AU - Gailite, Linda

PY - 2021/6/23

Y1 - 2021/6/23

N2 - 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.

AB - 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.

KW - Charcot-Marie-Tooth disease

KW - GJB1

KW - X-linked Charcot-Marie-Tooth disease

UR - http://www.scopus.com/inward/record.url?scp=85109111890&partnerID=8YFLogxK

U2 - 10.1159/000515170

DO - 10.1159/000515170

M3 - Article

AN - SCOPUS:85109111890

SN - 1662-680X

VL - 13

SP - 422

EP - 428

JO - Case Reports in Neurology

JF - Case Reports in Neurology

IS - 2

ER -

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

Abstract

Keywords*

Field of Science*

Publication Type*

Access to Document

Other files and links

Fingerprint

Cite this