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

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, neuro...

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Main Authors:	Sabine Kovale, Ruta Terauda, Elina Millere, Gita Taurina, Daiga Murmane, Jekaterina Isakova, Viktorija Kenina, Linda Gailite
Format:	Article
Language:	English
Published:	Karger Publishers 2021-06-01
Series:	Case Reports in Neurology
Subjects:	gjb1 x-linked charcot-marie-tooth disease charcot-marie-tooth disease
Online Access:	https://www.karger.com/Article/FullText/515170

id	doaj-30bb1c773fa74c88a1a7c25907d4fa00
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spelling	doaj-30bb1c773fa74c88a1a7c25907d4fa002021-07-22T08:09:59ZengKarger PublishersCase Reports in Neurology1662-680X2021-06-0113242242810.1159/000515170515170GJB1 Gene Analysis in Two Extended Families with X-Linked Charcot-Marie-Tooth DiseaseSabine Kovale0Ruta Terauda1Elina Millere2Gita Taurina3Daiga Murmane4Jekaterina Isakova5Viktorija Kenina6Linda Gailite7Scientific Laboratory of Molecular Genetics, Riga Stradins University, Riga, LatviaScientific Laboratory of Molecular Genetics, Riga Stradins University, Riga, LatviaScientific Laboratory of Molecular Genetics, Riga Stradins University, Riga, LatviaChildren’s Clinical University Hospital, Riga, LatviaChildren’s Clinical University Hospital, Riga, LatviaScientific Laboratory of Molecular Genetics, Riga Stradins University, Riga, LatviaScientific Laboratory of Molecular Genetics, Riga Stradins University, Riga, LatviaScientific Laboratory of Molecular Genetics, Riga Stradins University, Riga, LatviaX-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.https://www.karger.com/Article/FullText/515170gjb1x-linked charcot-marie-tooth diseasecharcot-marie-tooth disease
collection	DOAJ
language	English
format	Article
sources	DOAJ
author	Sabine Kovale Ruta Terauda Elina Millere Gita Taurina Daiga Murmane Jekaterina Isakova Viktorija Kenina Linda Gailite
spellingShingle	Sabine Kovale Ruta Terauda Elina Millere Gita Taurina Daiga Murmane Jekaterina Isakova Viktorija Kenina Linda Gailite GJB1 Gene Analysis in Two Extended Families with X-Linked Charcot-Marie-Tooth Disease Case Reports in Neurology gjb1 x-linked charcot-marie-tooth disease charcot-marie-tooth disease
author_facet	Sabine Kovale Ruta Terauda Elina Millere Gita Taurina Daiga Murmane Jekaterina Isakova Viktorija Kenina Linda Gailite
author_sort	Sabine Kovale
title	GJB1 Gene Analysis in Two Extended Families with X-Linked Charcot-Marie-Tooth Disease
title_short	GJB1 Gene Analysis in Two Extended Families with X-Linked Charcot-Marie-Tooth Disease
title_full	GJB1 Gene Analysis in Two Extended Families with X-Linked Charcot-Marie-Tooth Disease
title_fullStr	GJB1 Gene Analysis in Two Extended Families with X-Linked Charcot-Marie-Tooth Disease
title_full_unstemmed	GJB1 Gene Analysis in Two Extended Families with X-Linked Charcot-Marie-Tooth Disease
title_sort	gjb1 gene analysis in two extended families with x-linked charcot-marie-tooth disease
publisher	Karger Publishers
series	Case Reports in Neurology
issn	1662-680X
publishDate	2021-06-01
description	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.
topic	gjb1 x-linked charcot-marie-tooth disease charcot-marie-tooth disease
url	https://www.karger.com/Article/FullText/515170
work_keys_str_mv	AT sabinekovale gjb1geneanalysisintwoextendedfamilieswithxlinkedcharcotmarietoothdisease AT rutaterauda gjb1geneanalysisintwoextendedfamilieswithxlinkedcharcotmarietoothdisease AT elinamillere gjb1geneanalysisintwoextendedfamilieswithxlinkedcharcotmarietoothdisease AT gitataurina gjb1geneanalysisintwoextendedfamilieswithxlinkedcharcotmarietoothdisease AT daigamurmane gjb1geneanalysisintwoextendedfamilieswithxlinkedcharcotmarietoothdisease AT jekaterinaisakova gjb1geneanalysisintwoextendedfamilieswithxlinkedcharcotmarietoothdisease AT viktorijakenina gjb1geneanalysisintwoextendedfamilieswithxlinkedcharcotmarietoothdisease AT lindagailite gjb1geneanalysisintwoextendedfamilieswithxlinkedcharcotmarietoothdisease
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GJB1 Gene Analysis in Two Extended Families with X-Linked Charcot-Marie-Tooth Disease

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