Charcot-Marie-Tooth Disease with a Novel Variant in Gap Junction Protein Beta 1 Presenting with Visual Field Defects

Pathogenic variants in Gap Junction Protein Beta 1 (GJB1) cause X-linked Charcot-Marie-Tooth (CMT) disease type 1 (CMTX1), which is a common hereditary motor and sensory neuropathy. A 45-year-old man presented with progressive muscle weakness, atrophy, sensory disturbance of all limbs from childhood...

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Autores principales: Nozaki, Ichiro, Hashiguchi, Akihiro, Takashima, Hiroshi, Yamashita, Yoko, Higashide, Tomomi, Iwasa, Kazuo, Ono, Kenjiro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society of Internal Medicine 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10641200/
https://www.ncbi.nlm.nih.gov/pubmed/36792185
http://dx.doi.org/10.2169/internalmedicine.1403-22
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author Nozaki, Ichiro
Hashiguchi, Akihiro
Takashima, Hiroshi
Yamashita, Yoko
Higashide, Tomomi
Iwasa, Kazuo
Ono, Kenjiro
author_facet Nozaki, Ichiro
Hashiguchi, Akihiro
Takashima, Hiroshi
Yamashita, Yoko
Higashide, Tomomi
Iwasa, Kazuo
Ono, Kenjiro
author_sort Nozaki, Ichiro
collection PubMed
description Pathogenic variants in Gap Junction Protein Beta 1 (GJB1) cause X-linked Charcot-Marie-Tooth (CMT) disease type 1 (CMTX1), which is a common hereditary motor and sensory neuropathy. A 45-year-old man presented with progressive muscle weakness, atrophy, sensory disturbance of all limbs from childhood, and visual field defects in both eyes at 40 years old. A segregation analysis revealed a novel variant, c.173C＞A (p.P58H), in the GJB1 gene. Patients with variants at codon 58 in GJB1 showed clinically varied phenotypes, ranging from demyelinating neuropathy to cerebellar ataxia. This patient may represent one of the various clinical phenotypes of GJB1 variants.
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spelling pubmed-106412002023-11-15 Charcot-Marie-Tooth Disease with a Novel Variant in Gap Junction Protein Beta 1 Presenting with Visual Field Defects Nozaki, Ichiro Hashiguchi, Akihiro Takashima, Hiroshi Yamashita, Yoko Higashide, Tomomi Iwasa, Kazuo Ono, Kenjiro Intern Med Case Report Pathogenic variants in Gap Junction Protein Beta 1 (GJB1) cause X-linked Charcot-Marie-Tooth (CMT) disease type 1 (CMTX1), which is a common hereditary motor and sensory neuropathy. A 45-year-old man presented with progressive muscle weakness, atrophy, sensory disturbance of all limbs from childhood, and visual field defects in both eyes at 40 years old. A segregation analysis revealed a novel variant, c.173C＞A (p.P58H), in the GJB1 gene. Patients with variants at codon 58 in GJB1 showed clinically varied phenotypes, ranging from demyelinating neuropathy to cerebellar ataxia. This patient may represent one of the various clinical phenotypes of GJB1 variants. The Japanese Society of Internal Medicine 2023-02-15 2023-10-15 /pmc/articles/PMC10641200/ /pubmed/36792185 http://dx.doi.org/10.2169/internalmedicine.1403-22 Text en Copyright © 2023 by The Japanese Society of Internal Medicine https://creativecommons.org/licenses/by-nc-nd/4.0/The Internal Medicine is an Open Access journal distributed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License. To view the details of this license, please visit (https://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Case Report
Nozaki, Ichiro
Hashiguchi, Akihiro
Takashima, Hiroshi
Yamashita, Yoko
Higashide, Tomomi
Iwasa, Kazuo
Ono, Kenjiro
Charcot-Marie-Tooth Disease with a Novel Variant in Gap Junction Protein Beta 1 Presenting with Visual Field Defects
title Charcot-Marie-Tooth Disease with a Novel Variant in Gap Junction Protein Beta 1 Presenting with Visual Field Defects
title_full Charcot-Marie-Tooth Disease with a Novel Variant in Gap Junction Protein Beta 1 Presenting with Visual Field Defects
title_fullStr Charcot-Marie-Tooth Disease with a Novel Variant in Gap Junction Protein Beta 1 Presenting with Visual Field Defects
title_full_unstemmed Charcot-Marie-Tooth Disease with a Novel Variant in Gap Junction Protein Beta 1 Presenting with Visual Field Defects
title_short Charcot-Marie-Tooth Disease with a Novel Variant in Gap Junction Protein Beta 1 Presenting with Visual Field Defects
title_sort charcot-marie-tooth disease with a novel variant in gap junction protein beta 1 presenting with visual field defects
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10641200/
https://www.ncbi.nlm.nih.gov/pubmed/36792185
http://dx.doi.org/10.2169/internalmedicine.1403-22
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