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Identification of genetic variations of a Chinese family with paramyotonia congenita via whole exome sequencing

Paramyotonia congenita (PC) is a rare autosomal dominant neuromuscular disorder characterized by juvenile onset and development of cold-induced myotonia after repeated activities. The disease is mostly caused by genetic mutations of the sodium channel, voltage-gated, type IV, alpha subunit (SCN4A) g...

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Autores principales: Li, Jinxin, Huang, Qinghai, Ge, Liang, Xu, Jing, Shi, Xingjuan, Xie, Wei, Liu, Xiang, Liu, Xiangdong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4535863/
https://www.ncbi.nlm.nih.gov/pubmed/26484179
http://dx.doi.org/10.1016/j.gdata.2015.03.002
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author Li, Jinxin
Huang, Qinghai
Ge, Liang
Xu, Jing
Shi, Xingjuan
Xie, Wei
Liu, Xiang
Liu, Xiangdong
author_facet Li, Jinxin
Huang, Qinghai
Ge, Liang
Xu, Jing
Shi, Xingjuan
Xie, Wei
Liu, Xiang
Liu, Xiangdong
author_sort Li, Jinxin
collection PubMed
description Paramyotonia congenita (PC) is a rare autosomal dominant neuromuscular disorder characterized by juvenile onset and development of cold-induced myotonia after repeated activities. The disease is mostly caused by genetic mutations of the sodium channel, voltage-gated, type IV, alpha subunit (SCN4A) gene. This study intended to systematically identify the causative genetic variations of a Chinese Han PC family. Seven members of this PC family, including four patients and three healthy controls, were selected for whole exome sequencing (WES) using the Illumina HiSeq platform. Sequence variations were identified using the SoftGenetics program. The mutation R1448C of SCN4A was found to be the only causative mutation. This study applied WES technology to sequence multiple members of a large PC family and was the first to systematically confirm that the genetic change in SCN4A is the only causative variation in this PC family and the SCN4A mutation is sufficient to lead to PC.
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spelling pubmed-45358632015-10-19 Identification of genetic variations of a Chinese family with paramyotonia congenita via whole exome sequencing Li, Jinxin Huang, Qinghai Ge, Liang Xu, Jing Shi, Xingjuan Xie, Wei Liu, Xiang Liu, Xiangdong Genom Data Regular Article Paramyotonia congenita (PC) is a rare autosomal dominant neuromuscular disorder characterized by juvenile onset and development of cold-induced myotonia after repeated activities. The disease is mostly caused by genetic mutations of the sodium channel, voltage-gated, type IV, alpha subunit (SCN4A) gene. This study intended to systematically identify the causative genetic variations of a Chinese Han PC family. Seven members of this PC family, including four patients and three healthy controls, were selected for whole exome sequencing (WES) using the Illumina HiSeq platform. Sequence variations were identified using the SoftGenetics program. The mutation R1448C of SCN4A was found to be the only causative mutation. This study applied WES technology to sequence multiple members of a large PC family and was the first to systematically confirm that the genetic change in SCN4A is the only causative variation in this PC family and the SCN4A mutation is sufficient to lead to PC. Elsevier 2015-03-18 /pmc/articles/PMC4535863/ /pubmed/26484179 http://dx.doi.org/10.1016/j.gdata.2015.03.002 Text en © 2015 The Authors http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Regular Article
Li, Jinxin
Huang, Qinghai
Ge, Liang
Xu, Jing
Shi, Xingjuan
Xie, Wei
Liu, Xiang
Liu, Xiangdong
Identification of genetic variations of a Chinese family with paramyotonia congenita via whole exome sequencing
title Identification of genetic variations of a Chinese family with paramyotonia congenita via whole exome sequencing
title_full Identification of genetic variations of a Chinese family with paramyotonia congenita via whole exome sequencing
title_fullStr Identification of genetic variations of a Chinese family with paramyotonia congenita via whole exome sequencing
title_full_unstemmed Identification of genetic variations of a Chinese family with paramyotonia congenita via whole exome sequencing
title_short Identification of genetic variations of a Chinese family with paramyotonia congenita via whole exome sequencing
title_sort identification of genetic variations of a chinese family with paramyotonia congenita via whole exome sequencing
topic Regular Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4535863/
https://www.ncbi.nlm.nih.gov/pubmed/26484179
http://dx.doi.org/10.1016/j.gdata.2015.03.002
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