Digenic Variants in the TTN and TRAPPC11 Genes Co-segregating With a Limb-Girdle Muscular Dystrophy in a Han Chinese Family

Limb-girdle muscular dystrophies (LGMD) are hereditary genetic disorders characterized by progressive muscle impairment which predominantly include proximal muscle weaknesses in the pelvic and shoulder girdles. This article describes an attempt to identify genetic cause(s) for a LGMD pedigree via a...

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Autores principales: Chen, Qian, Zheng, Wen, Xu, Hongbo, Yang, Yan, Song, Zhi, Yuan, Lamei, Deng, Hao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7969792/
https://www.ncbi.nlm.nih.gov/pubmed/33746696
http://dx.doi.org/10.3389/fnins.2021.601757
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author Chen, Qian
Zheng, Wen
Xu, Hongbo
Yang, Yan
Song, Zhi
Yuan, Lamei
Deng, Hao
author_facet Chen, Qian
Zheng, Wen
Xu, Hongbo
Yang, Yan
Song, Zhi
Yuan, Lamei
Deng, Hao
author_sort Chen, Qian
collection PubMed
description Limb-girdle muscular dystrophies (LGMD) are hereditary genetic disorders characterized by progressive muscle impairment which predominantly include proximal muscle weaknesses in the pelvic and shoulder girdles. This article describes an attempt to identify genetic cause(s) for a LGMD pedigree via a combination of whole exome sequencing and Sanger sequencing. Digenic variants, the titin gene (TTN) c.19481T>G (p.Leu6494Arg) and the trafficking protein particle complex 11 gene (TRAPPC11) c.3092C>G (p.Pro1031Arg), co-segregated with the disease phenotype in the family, suggesting their possible pathogenicity.
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spelling pubmed-79697922021-03-19 Digenic Variants in the TTN and TRAPPC11 Genes Co-segregating With a Limb-Girdle Muscular Dystrophy in a Han Chinese Family Chen, Qian Zheng, Wen Xu, Hongbo Yang, Yan Song, Zhi Yuan, Lamei Deng, Hao Front Neurosci Neuroscience Limb-girdle muscular dystrophies (LGMD) are hereditary genetic disorders characterized by progressive muscle impairment which predominantly include proximal muscle weaknesses in the pelvic and shoulder girdles. This article describes an attempt to identify genetic cause(s) for a LGMD pedigree via a combination of whole exome sequencing and Sanger sequencing. Digenic variants, the titin gene (TTN) c.19481T>G (p.Leu6494Arg) and the trafficking protein particle complex 11 gene (TRAPPC11) c.3092C>G (p.Pro1031Arg), co-segregated with the disease phenotype in the family, suggesting their possible pathogenicity. Frontiers Media S.A. 2021-03-04 /pmc/articles/PMC7969792/ /pubmed/33746696 http://dx.doi.org/10.3389/fnins.2021.601757 Text en Copyright © 2021 Chen, Zheng, Xu, Yang, Song, Yuan and Deng. 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 Neuroscience
Chen, Qian
Zheng, Wen
Xu, Hongbo
Yang, Yan
Song, Zhi
Yuan, Lamei
Deng, Hao
Digenic Variants in the TTN and TRAPPC11 Genes Co-segregating With a Limb-Girdle Muscular Dystrophy in a Han Chinese Family
title Digenic Variants in the TTN and TRAPPC11 Genes Co-segregating With a Limb-Girdle Muscular Dystrophy in a Han Chinese Family
title_full Digenic Variants in the TTN and TRAPPC11 Genes Co-segregating With a Limb-Girdle Muscular Dystrophy in a Han Chinese Family
title_fullStr Digenic Variants in the TTN and TRAPPC11 Genes Co-segregating With a Limb-Girdle Muscular Dystrophy in a Han Chinese Family
title_full_unstemmed Digenic Variants in the TTN and TRAPPC11 Genes Co-segregating With a Limb-Girdle Muscular Dystrophy in a Han Chinese Family
title_short Digenic Variants in the TTN and TRAPPC11 Genes Co-segregating With a Limb-Girdle Muscular Dystrophy in a Han Chinese Family
title_sort digenic variants in the ttn and trappc11 genes co-segregating with a limb-girdle muscular dystrophy in a han chinese family
topic Neuroscience
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7969792/
https://www.ncbi.nlm.nih.gov/pubmed/33746696
http://dx.doi.org/10.3389/fnins.2021.601757
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