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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| Format: | Article |
| Language: | English |
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Elsevier
2015-06-01
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| Series: | Genomics Data |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S2213596015000197 |
| _version_ | 1818145607668203520 |
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| author | Jinxin Li Qinghai Huang Liang Ge Jing Xu Xingjuan Shi Wei Xie Xiang Liu Xiangdong Liu |
| author_facet | Jinxin Li Qinghai Huang Liang Ge Jing Xu Xingjuan Shi Wei Xie Xiang Liu Xiangdong Liu |
| author_sort | Jinxin Li |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-12-11T12:06:09Z |
| format | Article |
| id | doaj.art-67f15ec8b5154bc38567ce3a17a38fee |
| institution | Directory Open Access Journal |
| issn | 2213-5960 |
| language | English |
| last_indexed | 2024-12-11T12:06:09Z |
| publishDate | 2015-06-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Genomics Data |
| spelling | doaj.art-67f15ec8b5154bc38567ce3a17a38fee2022-12-22T01:07:55ZengElsevierGenomics Data2213-59602015-06-014C656810.1016/j.gdata.2015.03.002Identification of genetic variations of a Chinese family with paramyotonia congenita via whole exome sequencingJinxin Li0Qinghai Huang1Liang Ge2Jing Xu3Xingjuan Shi4Wei Xie5Xiang Liu6Xiangdong Liu7Key Laboratory of Developmental Genes and Human Diseases, Institute of Life Sciences, Southeast University, Nanjing 210096, ChinaKey Laboratory of Developmental Genes and Human Diseases, Institute of Life Sciences, Southeast University, Nanjing 210096, ChinaKey Laboratory of Developmental Genes and Human Diseases, Institute of Life Sciences, Southeast University, Nanjing 210096, ChinaKey Laboratory of Developmental Genes and Human Diseases, Institute of Life Sciences, Southeast University, Nanjing 210096, ChinaKey Laboratory of Developmental Genes and Human Diseases, Institute of Life Sciences, Southeast University, Nanjing 210096, ChinaKey Laboratory of Developmental Genes and Human Diseases, Institute of Life Sciences, Southeast University, Nanjing 210096, ChinaHainan Medical University, Hainan 571199, ChinaKey Laboratory of Developmental Genes and Human Diseases, Institute of Life Sciences, Southeast University, Nanjing 210096, ChinaParamyotonia 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.http://www.sciencedirect.com/science/article/pii/S2213596015000197Paramyotonia congenita (PC)Neuromuscular disorderSodium channelVoltage-gated type IV alpha subunit (SCN4A)Whole exome sequencing (WES) |
| spellingShingle | Jinxin Li Qinghai Huang Liang Ge Jing Xu Xingjuan Shi Wei Xie Xiang Liu Xiangdong Liu Identification of genetic variations of a Chinese family with paramyotonia congenita via whole exome sequencing Genomics Data Paramyotonia congenita (PC) Neuromuscular disorder Sodium channel Voltage-gated type IV alpha subunit (SCN4A) Whole exome sequencing (WES) |
| 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 | Paramyotonia congenita (PC) Neuromuscular disorder Sodium channel Voltage-gated type IV alpha subunit (SCN4A) Whole exome sequencing (WES) |
| url | http://www.sciencedirect.com/science/article/pii/S2213596015000197 |
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