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A novel variant of COL6A3 c.6817-2(IVS27)A>G causing Bethlem myopathy: A case report

Bethlem myopathy (BM) is a disease that is caused by mutations in the collagen VI genes. It is a mildly progressive disease characterized by proximal muscle weakness and contracture of the fingers, the wrist, the elbow, and the ankle. BM is an autosomal dominant inheritance that is mainly caused by...

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Autores principales: Li, Maohua, Huang, Jiandi, Liu, Min, Duan, Chunmei, Guo, Hong, Chen, Xiaoyan, Wang, Yue
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9911450/
https://www.ncbi.nlm.nih.gov/pubmed/36779064
http://dx.doi.org/10.3389/fneur.2023.1063090
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author Li, Maohua
Huang, Jiandi
Liu, Min
Duan, Chunmei
Guo, Hong
Chen, Xiaoyan
Wang, Yue
author_facet Li, Maohua
Huang, Jiandi
Liu, Min
Duan, Chunmei
Guo, Hong
Chen, Xiaoyan
Wang, Yue
author_sort Li, Maohua
collection PubMed
description Bethlem myopathy (BM) is a disease that is caused by mutations in the collagen VI genes. It is a mildly progressive disease characterized by proximal muscle weakness and contracture of the fingers, the wrist, the elbow, and the ankle. BM is an autosomal dominant inheritance that is mainly caused by dominant COL6A1, COL6A2, or COL6A3 mutations. However, a few cases of collagen VI mutations with bilateral facial weakness and Beevor's sign have also been reported. This study presents a 50-year-old female patient with symptoms of facial weakness beginning in childhood and with the slow progression of the disease with age. At the age of 30 years, the patient presented with asymmetrical proximal muscle weakness, and the neurological examination revealed bilateral facial weakness and a positive Beevor's sign. Phosphocreatine kinase was slightly elevated with electromyography showing myopathic changes and magnetic resonance imaging (MRI) of the lower limb muscles showing the muscle MRI associated with collagen VI (COL6)-related myopathy (COL6-RM). The whole-genome sequencing technology identified the heterozygous mutation c.6817-2(IVS27)A>G in the COL6A3 gene, which was in itself a novel mutation. The present study reports yet another case of BM, which is caused by the recessive COL6A3 intron variation, widening the clinical spectrum and genetic heterogeneity of BM.
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spelling pubmed-99114502023-02-11 A novel variant of COL6A3 c.6817-2(IVS27)A>G causing Bethlem myopathy: A case report Li, Maohua Huang, Jiandi Liu, Min Duan, Chunmei Guo, Hong Chen, Xiaoyan Wang, Yue Front Neurol Neurology Bethlem myopathy (BM) is a disease that is caused by mutations in the collagen VI genes. It is a mildly progressive disease characterized by proximal muscle weakness and contracture of the fingers, the wrist, the elbow, and the ankle. BM is an autosomal dominant inheritance that is mainly caused by dominant COL6A1, COL6A2, or COL6A3 mutations. However, a few cases of collagen VI mutations with bilateral facial weakness and Beevor's sign have also been reported. This study presents a 50-year-old female patient with symptoms of facial weakness beginning in childhood and with the slow progression of the disease with age. At the age of 30 years, the patient presented with asymmetrical proximal muscle weakness, and the neurological examination revealed bilateral facial weakness and a positive Beevor's sign. Phosphocreatine kinase was slightly elevated with electromyography showing myopathic changes and magnetic resonance imaging (MRI) of the lower limb muscles showing the muscle MRI associated with collagen VI (COL6)-related myopathy (COL6-RM). The whole-genome sequencing technology identified the heterozygous mutation c.6817-2(IVS27)A>G in the COL6A3 gene, which was in itself a novel mutation. The present study reports yet another case of BM, which is caused by the recessive COL6A3 intron variation, widening the clinical spectrum and genetic heterogeneity of BM. Frontiers Media S.A. 2023-01-27 /pmc/articles/PMC9911450/ /pubmed/36779064 http://dx.doi.org/10.3389/fneur.2023.1063090 Text en Copyright © 2023 Li, Huang, Liu, Duan, Guo, Chen and Wang. https://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
Li, Maohua
Huang, Jiandi
Liu, Min
Duan, Chunmei
Guo, Hong
Chen, Xiaoyan
Wang, Yue
A novel variant of COL6A3 c.6817-2(IVS27)A>G causing Bethlem myopathy: A case report
title A novel variant of COL6A3 c.6817-2(IVS27)A>G causing Bethlem myopathy: A case report
title_full A novel variant of COL6A3 c.6817-2(IVS27)A>G causing Bethlem myopathy: A case report
title_fullStr A novel variant of COL6A3 c.6817-2(IVS27)A>G causing Bethlem myopathy: A case report
title_full_unstemmed A novel variant of COL6A3 c.6817-2(IVS27)A>G causing Bethlem myopathy: A case report
title_short A novel variant of COL6A3 c.6817-2(IVS27)A>G causing Bethlem myopathy: A case report
title_sort novel variant of col6a3 c.6817-2(ivs27)a>g causing bethlem myopathy: a case report
topic Neurology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9911450/
https://www.ncbi.nlm.nih.gov/pubmed/36779064
http://dx.doi.org/10.3389/fneur.2023.1063090
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