Identification of a novel nonsense mutation p.Tyr1957Ter of CACNA1A in a Chinese family with episodic ataxia 2.
Type 2 episodic ataxia (EA2) is the most common subtype among a group of rare hereditary syndromes characterized by recurrent attacks of ataxia. More than 60 mutations and several gene rearrangements due to large deletions in CACNA1A gene have been reported so far for the cause of EA2. Because CACNA...
| Main Authors: | , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Public Library of Science (PLoS)
2013-01-01
|
| Series: | PLoS ONE |
| Online Access: | http://europepmc.org/articles/PMC3575407?pdf=render |
| _version_ | 1818912255963561984 |
|---|---|
| author | Yafang Hu Haishan Jiang Qun Wang Zuoshan Xie Suyue Pan |
| author_facet | Yafang Hu Haishan Jiang Qun Wang Zuoshan Xie Suyue Pan |
| author_sort | Yafang Hu |
| collection | DOAJ |
| description | Type 2 episodic ataxia (EA2) is the most common subtype among a group of rare hereditary syndromes characterized by recurrent attacks of ataxia. More than 60 mutations and several gene rearrangements due to large deletions in CACNA1A gene have been reported so far for the cause of EA2. Because CACNA1A gene is a large gene containing 47 exons and there is no hot spot mutation, direct sequencing will be a challenge in clinical genetic testing. In this study, we used next generation sequencing technology to identify a novel nonsense mutation of CACNA1A (p.Tyr1957Ter, NP_001120693.1) resulting in truncated protein without 305 amino acids in the c-terminus. Sanger sequencing confirmed the heterozygous mutation of CACNA1A in a Chinese family with 11 affected individuals. Affected individuals experienced recurrent attacks with or without nystagmus, dysarthria, seizure, myokymia, dystonia, weakness, blurred vision, visual field defects, diplopia, migraine, dizziness, nausea and vomiting, sweating and abdominal pain. This is the first report of EA2 in a Chinese family that carries a novel mutation in CACNA1A gene and had abdominal pain as a novel phenotype associated with EA2. |
| first_indexed | 2024-12-19T23:11:42Z |
| format | Article |
| id | doaj.art-6dad455bd0f6493894e98a99f20b933a |
| institution | Directory Open Access Journal |
| issn | 1932-6203 |
| language | English |
| last_indexed | 2024-12-19T23:11:42Z |
| publishDate | 2013-01-01 |
| publisher | Public Library of Science (PLoS) |
| record_format | Article |
| series | PLoS ONE |
| spelling | doaj.art-6dad455bd0f6493894e98a99f20b933a2022-12-21T20:02:12ZengPublic Library of Science (PLoS)PLoS ONE1932-62032013-01-0182e5636210.1371/journal.pone.0056362Identification of a novel nonsense mutation p.Tyr1957Ter of CACNA1A in a Chinese family with episodic ataxia 2.Yafang HuHaishan JiangQun WangZuoshan XieSuyue PanType 2 episodic ataxia (EA2) is the most common subtype among a group of rare hereditary syndromes characterized by recurrent attacks of ataxia. More than 60 mutations and several gene rearrangements due to large deletions in CACNA1A gene have been reported so far for the cause of EA2. Because CACNA1A gene is a large gene containing 47 exons and there is no hot spot mutation, direct sequencing will be a challenge in clinical genetic testing. In this study, we used next generation sequencing technology to identify a novel nonsense mutation of CACNA1A (p.Tyr1957Ter, NP_001120693.1) resulting in truncated protein without 305 amino acids in the c-terminus. Sanger sequencing confirmed the heterozygous mutation of CACNA1A in a Chinese family with 11 affected individuals. Affected individuals experienced recurrent attacks with or without nystagmus, dysarthria, seizure, myokymia, dystonia, weakness, blurred vision, visual field defects, diplopia, migraine, dizziness, nausea and vomiting, sweating and abdominal pain. This is the first report of EA2 in a Chinese family that carries a novel mutation in CACNA1A gene and had abdominal pain as a novel phenotype associated with EA2.http://europepmc.org/articles/PMC3575407?pdf=render |
| spellingShingle | Yafang Hu Haishan Jiang Qun Wang Zuoshan Xie Suyue Pan Identification of a novel nonsense mutation p.Tyr1957Ter of CACNA1A in a Chinese family with episodic ataxia 2. PLoS ONE |
| title | Identification of a novel nonsense mutation p.Tyr1957Ter of CACNA1A in a Chinese family with episodic ataxia 2. |
| title_full | Identification of a novel nonsense mutation p.Tyr1957Ter of CACNA1A in a Chinese family with episodic ataxia 2. |
| title_fullStr | Identification of a novel nonsense mutation p.Tyr1957Ter of CACNA1A in a Chinese family with episodic ataxia 2. |
| title_full_unstemmed | Identification of a novel nonsense mutation p.Tyr1957Ter of CACNA1A in a Chinese family with episodic ataxia 2. |
| title_short | Identification of a novel nonsense mutation p.Tyr1957Ter of CACNA1A in a Chinese family with episodic ataxia 2. |
| title_sort | identification of a novel nonsense mutation p tyr1957ter of cacna1a in a chinese family with episodic ataxia 2 |
| url | http://europepmc.org/articles/PMC3575407?pdf=render |
| work_keys_str_mv | AT yafanghu identificationofanovelnonsensemutationptyr1957terofcacna1ainachinesefamilywithepisodicataxia2 AT haishanjiang identificationofanovelnonsensemutationptyr1957terofcacna1ainachinesefamilywithepisodicataxia2 AT qunwang identificationofanovelnonsensemutationptyr1957terofcacna1ainachinesefamilywithepisodicataxia2 AT zuoshanxie identificationofanovelnonsensemutationptyr1957terofcacna1ainachinesefamilywithepisodicataxia2 AT suyuepan identificationofanovelnonsensemutationptyr1957terofcacna1ainachinesefamilywithepisodicataxia2 |