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Novel mutation in the periaxin gene causal to Charcot–Marie–Tooth disease type 4F
Charcot–Marie–Tooth (CMT) disease is the most common hereditary neuropathy. Mutations in the periaxin gene (PRX) can cause CMT type 4F, an autosomal recessive neuropathy, which is clinically characterized by slowly progressive distal muscle atrophy and weakness, with pes cavus deformity of the foot,...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
SAGE Publications
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7581982/ https://www.ncbi.nlm.nih.gov/pubmed/31426691 http://dx.doi.org/10.1177/0300060519862064 |
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author | Chen, Yu-hui Zhang, Hua Meng, Ling-bing Tang, Xiao-yan Gong, Tao Yin, Jian |
author_facet | Chen, Yu-hui Zhang, Hua Meng, Ling-bing Tang, Xiao-yan Gong, Tao Yin, Jian |
author_sort | Chen, Yu-hui |
collection | PubMed |
description | Charcot–Marie–Tooth (CMT) disease is the most common hereditary neuropathy. Mutations in the periaxin gene (PRX) can cause CMT type 4F, an autosomal recessive neuropathy, which is clinically characterized by slowly progressive distal muscle atrophy and weakness, with pes cavus deformity of the foot, and the absence of deep tendon reflexes. To date, dozens of reports of PRX mutations have been published worldwide, but none have been reported in Chinese patients. Here, we describe a 14-year-old Chinese boy with neuropathy characterized by slowly progressive limb weakness and atrophy, as well as sensory ataxia, whose cerebrospinal protein levels were 1627 mg/L. Genetic analysis identified a novel homozygous mutation, c.1174C>T (p.R392X), in exon 6 of PRX, which is the first case of its kind recorded in China. |
format | Online Article Text |
id | pubmed-7581982 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2019 |
publisher | SAGE Publications |
record_format | MEDLINE/PubMed |
spelling | pubmed-75819822020-11-03 Novel mutation in the periaxin gene causal to Charcot–Marie–Tooth disease type 4F Chen, Yu-hui Zhang, Hua Meng, Ling-bing Tang, Xiao-yan Gong, Tao Yin, Jian J Int Med Res Special Issue: Rare Diseases: Advances in Diagnosis, Prevention, Treatment and Management Charcot–Marie–Tooth (CMT) disease is the most common hereditary neuropathy. Mutations in the periaxin gene (PRX) can cause CMT type 4F, an autosomal recessive neuropathy, which is clinically characterized by slowly progressive distal muscle atrophy and weakness, with pes cavus deformity of the foot, and the absence of deep tendon reflexes. To date, dozens of reports of PRX mutations have been published worldwide, but none have been reported in Chinese patients. Here, we describe a 14-year-old Chinese boy with neuropathy characterized by slowly progressive limb weakness and atrophy, as well as sensory ataxia, whose cerebrospinal protein levels were 1627 mg/L. Genetic analysis identified a novel homozygous mutation, c.1174C>T (p.R392X), in exon 6 of PRX, which is the first case of its kind recorded in China. SAGE Publications 2019-08-20 /pmc/articles/PMC7581982/ /pubmed/31426691 http://dx.doi.org/10.1177/0300060519862064 Text en © The Author(s) 2019 https://creativecommons.org/licenses/by-nc/4.0/ Creative Commons Non Commercial CC BY-NC: This article is distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 License (https://creativecommons.org/licenses/by-nc/4.0/) which permits non-commercial use, reproduction and distribution of the work without further permission provided the original work is attributed as specified on the SAGE and Open Access pages (https://us.sagepub.com/en-us/nam/open-access-at-sage). |
spellingShingle | Special Issue: Rare Diseases: Advances in Diagnosis, Prevention, Treatment and Management Chen, Yu-hui Zhang, Hua Meng, Ling-bing Tang, Xiao-yan Gong, Tao Yin, Jian Novel mutation in the periaxin gene causal to Charcot–Marie–Tooth disease type 4F |
title | Novel mutation in the periaxin gene causal to Charcot–Marie–Tooth disease type 4F |
title_full | Novel mutation in the periaxin gene causal to Charcot–Marie–Tooth disease type 4F |
title_fullStr | Novel mutation in the periaxin gene causal to Charcot–Marie–Tooth disease type 4F |
title_full_unstemmed | Novel mutation in the periaxin gene causal to Charcot–Marie–Tooth disease type 4F |
title_short | Novel mutation in the periaxin gene causal to Charcot–Marie–Tooth disease type 4F |
title_sort | novel mutation in the periaxin gene causal to charcot–marie–tooth disease type 4f |
topic | Special Issue: Rare Diseases: Advances in Diagnosis, Prevention, Treatment and Management |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7581982/ https://www.ncbi.nlm.nih.gov/pubmed/31426691 http://dx.doi.org/10.1177/0300060519862064 |
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