MovDisordV3, Main, Exploration, bibRecord, 002A32

A novel mutation of the ε‐sarcoglycan gene in a Chinese family with myoclonus‐dystonia syndrome

Identifieur interne : 002A32 ( Main/Exploration ); précédent : 002A31; suivant : 002A33

A novel mutation of the ε‐sarcoglycan gene in a Chinese family with myoclonus‐dystonia syndrome

Auteurs : Xue-Ping Chen [République populaire de Chine] ; Yang-Wei Zhang [République populaire de Chine] ; Shu-Shan Zhang [République populaire de Chine] ; Qin Chen [République populaire de Chine] ; Jean-Marc Burgunder [République populaire de Chine, Suisse] ; Shu-Hui Wu [République populaire de Chine] ; Yuan Yang [République populaire de Chine] ; Zu-Ming Luo [République populaire de Chine] ; Hui-Fang Shang [République populaire de Chine]

Source :

Movement Disorders [ 0885-3185 ] ; 2008-07-30.

RBID : ISTEX:775E79ECCB12E572FEB47A6793755A8491C96FF1

Descripteurs français

Pascal (Inist)
- Chinois, Dystonie, Mutation, Myoclonie, Pathologie du système nerveux.
Wicri :
- geographic : République populaire de Chine.

English descriptors

KwdEn :
- Adolescent, Child, China (epidemiology), Chinese, Codon, Nonsense, Dystonia, Dystonic Disorders (ethnology), Dystonic Disorders (genetics), Exons (genetics), Female, Frameshift Mutation, Heterozygote, Humans, Introns (genetics), Male, Mutagenesis, Insertional, Mutation, Myoclonus, Myoclonus (ethnology), Myoclonus (genetics), Nervous system diseases, Pedigree, Phenotype, Polymerase Chain Reaction, Polymorphism, Single Nucleotide, RNA Stability, RNA, Messenger (genetics), RNA, Messenger (metabolism), Sarcoglycans (genetics), Sarcoglycans (physiology), gene mutation, myoclonus‐dystonia syndrome, ϵ‐sarcoglycan gene.
MESH :
- chemical , genetics : RNA, Messenger, Sarcoglycans.
- chemical , metabolism : RNA, Messenger.
- chemical , physiology : Sarcoglycans.
- chemical : Codon, Nonsense.
- geographic , epidemiology : China.
- ethnology : Dystonic Disorders, Myoclonus.
- genetics : Dystonic Disorders, Exons, Introns, Myoclonus.
- Adolescent, Child, Female, Frameshift Mutation, Heterozygote, Humans, Male, Mutagenesis, Insertional, Pedigree, Phenotype, Polymerase Chain Reaction, Polymorphism, Single Nucleotide, RNA Stability.

Abstract

In a Chinese myoclonus‐dystonia syndrome (MDS) family presented with a phenotype including a typical MDS, cervical dystonia, and writer's cramp, genetic analyses revealed a novel 662 + 1insG heterozygous mutation in exon 5 in the ε‐sarcoglycan (SGCE) gene, leading to a frameshift with a down stream stop codon. Low SGCE mRNA levels were detected in the mutation carriers by real‐time PCR, suggesting that the nonsense mutation might interference with the stability of SGCE mRNA. This is the first report on Chinese with a SGCE mutation leading to MDS. Our data support the fact that same mutation of SGCE gene can lead to a varied phenotype, even in the same family. © 2008 Movement Disorder Society

Url:

https://api.istex.fr/document/775E79ECCB12E572FEB47A6793755A8491C96FF1/fulltext/pdf

DOI: 10.1002/mds.22008

Affiliations:

Le document en format XML

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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term>
<term>Child</term>
<term>China (epidemiology)</term>
<term>Chinese</term>
<term>Codon, Nonsense</term>
<term>Dystonia</term>
<term>Dystonic Disorders (ethnology)</term>
<term>Dystonic Disorders (genetics)</term>
<term>Exons (genetics)</term>
<term>Female</term>
<term>Frameshift Mutation</term>
<term>Heterozygote</term>
<term>Humans</term>
<term>Introns (genetics)</term>
<term>Male</term>
<term>Mutagenesis, Insertional</term>
<term>Mutation</term>
<term>Myoclonus</term>
<term>Myoclonus (ethnology)</term>
<term>Myoclonus (genetics)</term>
<term>Nervous system diseases</term>
<term>Pedigree</term>
<term>Phenotype</term>
<term>Polymerase Chain Reaction</term>
<term>Polymorphism, Single Nucleotide</term>
<term>RNA Stability</term>
<term>RNA, Messenger (genetics)</term>
<term>RNA, Messenger (metabolism)</term>
<term>Sarcoglycans (genetics)</term>
<term>Sarcoglycans (physiology)</term>
<term>gene mutation</term>
<term>myoclonus‐dystonia syndrome</term>
<term>ϵ‐sarcoglycan gene</term>
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<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>RNA, Messenger</term>
<term>Sarcoglycans</term>
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<keywords scheme="MESH" type="chemical" qualifier="metabolism" xml:lang="en"><term>RNA, Messenger</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="physiology" xml:lang="en"><term>Sarcoglycans</term>
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<term>Child</term>
<term>Female</term>
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<term>Heterozygote</term>
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<term>Mutagenesis, Insertional</term>
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<term>Phenotype</term>
<term>Polymerase Chain Reaction</term>
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<term>RNA Stability</term>
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<front><div type="abstract" xml:lang="en">In a Chinese myoclonus‐dystonia syndrome (MDS) family presented with a phenotype including a typical MDS, cervical dystonia, and writer's cramp, genetic analyses revealed a novel 662 + 1insG heterozygous mutation in exon 5 in the ε‐sarcoglycan (SGCE) gene, leading to a frameshift with a down stream stop codon. Low SGCE mRNA levels were detected in the mutation carriers by real‐time PCR, suggesting that the nonsense mutation might interference with the stability of SGCE mRNA. This is the first report on Chinese with a SGCE mutation leading to MDS. Our data support the fact that same mutation of SGCE gene can lead to a varied phenotype, even in the same family. © 2008 Movement Disorder Society</div>
</front>
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<li>Suisse</li>
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<tree><country name="République populaire de Chine"><noRegion><name sortKey="Chen, Xue Ing" sort="Chen, Xue Ing" uniqKey="Chen X" first="Xue-Ping" last="Chen">Xue-Ping Chen</name>
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<name sortKey="Burgunder, Jean Arc" sort="Burgunder, Jean Arc" uniqKey="Burgunder J" first="Jean-Marc" last="Burgunder">Jean-Marc Burgunder</name>
<name sortKey="Chen, Qin" sort="Chen, Qin" uniqKey="Chen Q" first="Qin" last="Chen">Qin Chen</name>
<name sortKey="Luo, Zu Ing" sort="Luo, Zu Ing" uniqKey="Luo Z" first="Zu-Ming" last="Luo">Zu-Ming Luo</name>
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<name sortKey="Yang, Yuan" sort="Yang, Yuan" uniqKey="Yang Y" first="Yuan" last="Yang">Yuan Yang</name>
<name sortKey="Zhang, Shu Han" sort="Zhang, Shu Han" uniqKey="Zhang S" first="Shu-Shan" last="Zhang">Shu-Shan Zhang</name>
<name sortKey="Zhang, Yang Ei" sort="Zhang, Yang Ei" uniqKey="Zhang Y" first="Yang-Wei" last="Zhang">Yang-Wei Zhang</name>
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<country name="Suisse"><region name="Canton de Berne"><name sortKey="Burgunder, Jean Arc" sort="Burgunder, Jean Arc" uniqKey="Burgunder J" first="Jean-Marc" last="Burgunder">Jean-Marc Burgunder</name>
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Movement Disorders (revue)

A novel mutation of the ε‐sarcoglycan gene in a Chinese family with myoclonus‐dystonia syndrome

A novel mutation of the ε‐sarcoglycan gene in a Chinese family with myoclonus‐dystonia syndrome

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

	Movement Disorders (revue)
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