A Novel Variant in Non-coding Region of GJB1 Is Associated With X-Linked Charcot-Marie-Tooth Disease Type 1 and Transient CNS Symptoms

X-linked Charcot-Marie-Tooth disease type 1 (CMTX1) is a dominantly inherited peripheral neuropathy and is caused by mutations in gap junction beta 1 gene (GJB1). Here, a novel variant of c.-170T>G in GJB1 was identified in a large Chinese CMTX1 pedigree. The proband presented transient “stroke-l...

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Autores principales: Luo, Si, Jin, Hui, Chen, Jiajun, Zhang, Lei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6491636/
https://www.ncbi.nlm.nih.gov/pubmed/31068899
http://dx.doi.org/10.3389/fneur.2019.00413
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author Luo, Si
Jin, Hui
Chen, Jiajun
Zhang, Lei
author_facet Luo, Si
Jin, Hui
Chen, Jiajun
Zhang, Lei
author_sort Luo, Si
collection PubMed
description X-linked Charcot-Marie-Tooth disease type 1 (CMTX1) is a dominantly inherited peripheral neuropathy and is caused by mutations in gap junction beta 1 gene (GJB1). Here, a novel variant of c.-170T>G in GJB1 was identified in a large Chinese CMTX1 pedigree. The proband presented transient “stroke-like” episodes in addition to the peripheral neuropathy. At the time of episode, he had transient hyperthyroidism. To our knowledge, this is the first variant found in non-coding region associated with transient central nervous system (CNS) symptoms and in this case, thyroid dysfunction might contribute to the episode. The mechanism of CMTX1 as well as the transient CNS symptoms waits to be elucidated.
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spelling pubmed-64916362019-05-08 A Novel Variant in Non-coding Region of GJB1 Is Associated With X-Linked Charcot-Marie-Tooth Disease Type 1 and Transient CNS Symptoms Luo, Si Jin, Hui Chen, Jiajun Zhang, Lei Front Neurol Neurology X-linked Charcot-Marie-Tooth disease type 1 (CMTX1) is a dominantly inherited peripheral neuropathy and is caused by mutations in gap junction beta 1 gene (GJB1). Here, a novel variant of c.-170T>G in GJB1 was identified in a large Chinese CMTX1 pedigree. The proband presented transient “stroke-like” episodes in addition to the peripheral neuropathy. At the time of episode, he had transient hyperthyroidism. To our knowledge, this is the first variant found in non-coding region associated with transient central nervous system (CNS) symptoms and in this case, thyroid dysfunction might contribute to the episode. The mechanism of CMTX1 as well as the transient CNS symptoms waits to be elucidated. Frontiers Media S.A. 2019-04-24 /pmc/articles/PMC6491636/ /pubmed/31068899 http://dx.doi.org/10.3389/fneur.2019.00413 Text en Copyright © 2019 Luo, Jin, Chen and Zhang. http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Neurology
Luo, Si
Jin, Hui
Chen, Jiajun
Zhang, Lei
A Novel Variant in Non-coding Region of GJB1 Is Associated With X-Linked Charcot-Marie-Tooth Disease Type 1 and Transient CNS Symptoms
title A Novel Variant in Non-coding Region of GJB1 Is Associated With X-Linked Charcot-Marie-Tooth Disease Type 1 and Transient CNS Symptoms
title_full A Novel Variant in Non-coding Region of GJB1 Is Associated With X-Linked Charcot-Marie-Tooth Disease Type 1 and Transient CNS Symptoms
title_fullStr A Novel Variant in Non-coding Region of GJB1 Is Associated With X-Linked Charcot-Marie-Tooth Disease Type 1 and Transient CNS Symptoms
title_full_unstemmed A Novel Variant in Non-coding Region of GJB1 Is Associated With X-Linked Charcot-Marie-Tooth Disease Type 1 and Transient CNS Symptoms
title_short A Novel Variant in Non-coding Region of GJB1 Is Associated With X-Linked Charcot-Marie-Tooth Disease Type 1 and Transient CNS Symptoms
title_sort novel variant in non-coding region of gjb1 is associated with x-linked charcot-marie-tooth disease type 1 and transient cns symptoms
topic Neurology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6491636/
https://www.ncbi.nlm.nih.gov/pubmed/31068899
http://dx.doi.org/10.3389/fneur.2019.00413
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