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A Chinese boy with familial Duchenne muscular dystrophy owing to a novel hemizygous nonsense mutation (c.6283C>T) in an exon of the DMD gene
Duchenne muscular dystrophy is a severe, X-linked, progressive neuromuscular disorder clinically characterised by muscle weakening and extremely high serum creatine kinase levels. A 1-year-old Chinese patient was diagnosed with early-onset Duchenne muscular dystrophy. Next-generation gene sequencing...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
SAGE Publications
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9130841/ https://www.ncbi.nlm.nih.gov/pubmed/35646370 http://dx.doi.org/10.1177/2050313X221100881 |
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author | Li, Xing-Chuan Wang, Song Zhu, Jia-Rui Yin, Yu-Shan Zhang, Ni |
author_facet | Li, Xing-Chuan Wang, Song Zhu, Jia-Rui Yin, Yu-Shan Zhang, Ni |
author_sort | Li, Xing-Chuan |
collection | PubMed |
description | Duchenne muscular dystrophy is a severe, X-linked, progressive neuromuscular disorder clinically characterised by muscle weakening and extremely high serum creatine kinase levels. A 1-year-old Chinese patient was diagnosed with early-onset Duchenne muscular dystrophy. Next-generation gene sequencing was conducted and the Sanger method was used to validate sequencing. We identified a novel nonsense mutation (c.6283C>T) in DMD that caused the replacement of native arginine at codon 2095 with a premature termination codon (p.R2095X), which may have had a pathogenic effect against dystrophin in our patient’s muscle cell membranes. We discovered a novel nonsense mutation in DMD that will expand the pathogenic mutation spectrum for Duchenne muscular dystrophy. |
format | Online Article Text |
id | pubmed-9130841 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | SAGE Publications |
record_format | MEDLINE/PubMed |
spelling | pubmed-91308412022-05-26 A Chinese boy with familial Duchenne muscular dystrophy owing to a novel hemizygous nonsense mutation (c.6283C>T) in an exon of the DMD gene Li, Xing-Chuan Wang, Song Zhu, Jia-Rui Yin, Yu-Shan Zhang, Ni SAGE Open Med Case Rep Case Report Duchenne muscular dystrophy is a severe, X-linked, progressive neuromuscular disorder clinically characterised by muscle weakening and extremely high serum creatine kinase levels. A 1-year-old Chinese patient was diagnosed with early-onset Duchenne muscular dystrophy. Next-generation gene sequencing was conducted and the Sanger method was used to validate sequencing. We identified a novel nonsense mutation (c.6283C>T) in DMD that caused the replacement of native arginine at codon 2095 with a premature termination codon (p.R2095X), which may have had a pathogenic effect against dystrophin in our patient’s muscle cell membranes. We discovered a novel nonsense mutation in DMD that will expand the pathogenic mutation spectrum for Duchenne muscular dystrophy. SAGE Publications 2022-05-21 /pmc/articles/PMC9130841/ /pubmed/35646370 http://dx.doi.org/10.1177/2050313X221100881 Text en © The Author(s) 2022 https://creativecommons.org/licenses/by-nc/4.0/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 page (https://us.sagepub.com/en-us/nam/open-access-at-sage). |
spellingShingle | Case Report Li, Xing-Chuan Wang, Song Zhu, Jia-Rui Yin, Yu-Shan Zhang, Ni A Chinese boy with familial Duchenne muscular dystrophy owing to a novel hemizygous nonsense mutation (c.6283C>T) in an exon of the DMD gene |
title | A Chinese boy with familial Duchenne muscular dystrophy owing to a novel
hemizygous nonsense mutation (c.6283C>T) in an exon of the DMD
gene |
title_full | A Chinese boy with familial Duchenne muscular dystrophy owing to a novel
hemizygous nonsense mutation (c.6283C>T) in an exon of the DMD
gene |
title_fullStr | A Chinese boy with familial Duchenne muscular dystrophy owing to a novel
hemizygous nonsense mutation (c.6283C>T) in an exon of the DMD
gene |
title_full_unstemmed | A Chinese boy with familial Duchenne muscular dystrophy owing to a novel
hemizygous nonsense mutation (c.6283C>T) in an exon of the DMD
gene |
title_short | A Chinese boy with familial Duchenne muscular dystrophy owing to a novel
hemizygous nonsense mutation (c.6283C>T) in an exon of the DMD
gene |
title_sort | chinese boy with familial duchenne muscular dystrophy owing to a novel
hemizygous nonsense mutation (c.6283c>t) in an exon of the dmd
gene |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9130841/ https://www.ncbi.nlm.nih.gov/pubmed/35646370 http://dx.doi.org/10.1177/2050313X221100881 |
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