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Clinical and genetic analysis of a case with centronuclear myopathy caused by SPEG gene mutation: a case report and literature review

BACKGROUND: Centronuclear myopathy (CNM), a subtype of congenital myopathy (CM), is a group of clinical and genetically heterogeneous muscle disorders. Since the discovery of the SPEG gene and disease-causing variants, only a few additional patients have been reported. CASE PRESENTATION: The child,...

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Autores principales: Zhang, Gang, Xu, Min, Huang, Tingting, Lin, Wenxin, Chen, Jinglin, Chen, Wangyang, Chang, Xingzhi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8082920/
https://www.ncbi.nlm.nih.gov/pubmed/33926407
http://dx.doi.org/10.1186/s12887-021-02656-6
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author Zhang, Gang
Xu, Min
Huang, Tingting
Lin, Wenxin
Chen, Jinglin
Chen, Wangyang
Chang, Xingzhi
author_facet Zhang, Gang
Xu, Min
Huang, Tingting
Lin, Wenxin
Chen, Jinglin
Chen, Wangyang
Chang, Xingzhi
author_sort Zhang, Gang
collection PubMed
description BACKGROUND: Centronuclear myopathy (CNM), a subtype of congenital myopathy (CM), is a group of clinical and genetically heterogeneous muscle disorders. Since the discovery of the SPEG gene and disease-causing variants, only a few additional patients have been reported. CASE PRESENTATION: The child, a 13-year-old female, had delayed motor development since childhood, weakness of both lower extremities for 10 years, gait swinging, and a positive Gower sign. Her distal muscle strength of both lower extremities was grade IV. The electromyography showed myogenic damage and electromyographic changes. Her 11-year-old sister had a similar muscle weakness phenotype. Gene sequencing revealed that both sisters had SPEG compound heterozygous mutations, and the mutation sites were c.3715 + 4C > T and c.3588delC, which were derived from their parents. These variant sites have not been reported before. The muscle biopsy showed the nucleic (> 20% of fibers) were located in the center of the cell, the average diameter of type I myofibers was slightly smaller than that of type II myofibers, and the pathology of type I myofibers was dominant, which agreed with the pathological changes of centronuclear myopathy. CONCLUSIONS: The clinical phenotypes of CNM patients caused by mutations at different sites of the SPEG gene are also different. In this case, there was no cardiomyopathy. This study expanded the number of CNM cases and the mutation spectrum of the SPEG gene to provide references for prenatal diagnosis and genetic counseling.
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spelling pubmed-80829202021-04-29 Clinical and genetic analysis of a case with centronuclear myopathy caused by SPEG gene mutation: a case report and literature review Zhang, Gang Xu, Min Huang, Tingting Lin, Wenxin Chen, Jinglin Chen, Wangyang Chang, Xingzhi BMC Pediatr Case Report BACKGROUND: Centronuclear myopathy (CNM), a subtype of congenital myopathy (CM), is a group of clinical and genetically heterogeneous muscle disorders. Since the discovery of the SPEG gene and disease-causing variants, only a few additional patients have been reported. CASE PRESENTATION: The child, a 13-year-old female, had delayed motor development since childhood, weakness of both lower extremities for 10 years, gait swinging, and a positive Gower sign. Her distal muscle strength of both lower extremities was grade IV. The electromyography showed myogenic damage and electromyographic changes. Her 11-year-old sister had a similar muscle weakness phenotype. Gene sequencing revealed that both sisters had SPEG compound heterozygous mutations, and the mutation sites were c.3715 + 4C > T and c.3588delC, which were derived from their parents. These variant sites have not been reported before. The muscle biopsy showed the nucleic (> 20% of fibers) were located in the center of the cell, the average diameter of type I myofibers was slightly smaller than that of type II myofibers, and the pathology of type I myofibers was dominant, which agreed with the pathological changes of centronuclear myopathy. CONCLUSIONS: The clinical phenotypes of CNM patients caused by mutations at different sites of the SPEG gene are also different. In this case, there was no cardiomyopathy. This study expanded the number of CNM cases and the mutation spectrum of the SPEG gene to provide references for prenatal diagnosis and genetic counseling. BioMed Central 2021-04-29 /pmc/articles/PMC8082920/ /pubmed/33926407 http://dx.doi.org/10.1186/s12887-021-02656-6 Text en © The Author(s) 2021 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
spellingShingle Case Report
Zhang, Gang
Xu, Min
Huang, Tingting
Lin, Wenxin
Chen, Jinglin
Chen, Wangyang
Chang, Xingzhi
Clinical and genetic analysis of a case with centronuclear myopathy caused by SPEG gene mutation: a case report and literature review
title Clinical and genetic analysis of a case with centronuclear myopathy caused by SPEG gene mutation: a case report and literature review
title_full Clinical and genetic analysis of a case with centronuclear myopathy caused by SPEG gene mutation: a case report and literature review
title_fullStr Clinical and genetic analysis of a case with centronuclear myopathy caused by SPEG gene mutation: a case report and literature review
title_full_unstemmed Clinical and genetic analysis of a case with centronuclear myopathy caused by SPEG gene mutation: a case report and literature review
title_short Clinical and genetic analysis of a case with centronuclear myopathy caused by SPEG gene mutation: a case report and literature review
title_sort clinical and genetic analysis of a case with centronuclear myopathy caused by speg gene mutation: a case report and literature review
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8082920/
https://www.ncbi.nlm.nih.gov/pubmed/33926407
http://dx.doi.org/10.1186/s12887-021-02656-6
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