MovDisordV3, France, Analysis, bibRecord, 000334

First determination of the incidence of the unique TOR1A gene mutation, c.907delGAG, in a Mediterranean population

Identifieur interne : 000334 ( France/Analysis ); précédent : 000333; suivant : 000335

First determination of the incidence of the unique TOR1A gene mutation, c.907delGAG, in a Mediterranean population

Auteurs : Mélissa Frédéric [France] ; Estelle Lucarz [France] ; Christine Monino [France] ; Céline Saquet [France] ; Delphine Thorel [France] ; Mireille Claustres [France] ; Tuffery-Giraud Sylvie [France] ; Collod-Béroud Gwenaelle [France]

Source :

Movement Disorders [ 0885-3185 ] ; 2007-04-30.

RBID : ISTEX:3954C47DECAEA04646A277D406341B24B6300538

Descripteurs français

Pascal (Inist)
- Dystonie, Incidence, Mutation, Système nerveux pathologie.
Wicri :
- geographic : France.

English descriptors

KwdEn :
- DNA (blood), DNA (genetics), DYT1, Dystonia, France, Gene Amplification, Humans, Incidence, Infant, Newborn, Mediterranean Islands, Molecular Chaperones (genetics), Mutation, Nervous system diseases, Sequence Deletion, TOR1A, incidence, primary dystonia.
MESH :
- chemical , blood : DNA.
- chemical , genetics : DNA, Molecular Chaperones.
- geographic : France, Mediterranean Islands.
- Gene Amplification, Humans, Incidence, Infant, Newborn, Mutation, Sequence Deletion.

Abstract

The c.907delGAG mutation in the TOR1A gene (also named DYT1) is the most common cause of early‐onset primary dystonia. The mutation frequency and prevalence have so far been only estimated from rare clinical epidemiological reports in some populations. The purpose of this study was to investigate the incidence at birth of the c.907delGAG mutation in a French‐representative mixed population of newborn from South‐Eastern France. We applied an automated high‐throughput genotyping method to dried blood spot samples from 12,000 newborns registered in Hérault between 2004 and 2005. Only one allele was found to carry the mutation, which allows to determine its incidence at birth as 1/12,000 per year in this area. © 2007 Movement Disorder Society

Url:

https://api.istex.fr/document/3954C47DECAEA04646A277D406341B24B6300538/fulltext/pdf

DOI: 10.1002/mds.21391

Affiliations:

Links to Exploration step

ISTEX:3954C47DECAEA04646A277D406341B24B6300538

Le document en format XML

<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">First determination of the incidence of the unique TOR1A gene mutation, c.907delGAG, in a Mediterranean population</title>
<author><name sortKey="Frederic, Melissa" sort="Frederic, Melissa" uniqKey="Frederic M" first="Mélissa" last="Frédéric">Mélissa Frédéric</name>
</author>
<author><name sortKey="Lucarz, Estelle" sort="Lucarz, Estelle" uniqKey="Lucarz E" first="Estelle" last="Lucarz">Estelle Lucarz</name>
</author>
<author><name sortKey="Monino, Christine" sort="Monino, Christine" uniqKey="Monino C" first="Christine" last="Monino">Christine Monino</name>
</author>
<author><name sortKey="Saquet, Celine" sort="Saquet, Celine" uniqKey="Saquet C" first="Céline" last="Saquet">Céline Saquet</name>
</author>
<author><name sortKey="Thorel, Delphine" sort="Thorel, Delphine" uniqKey="Thorel D" first="Delphine" last="Thorel">Delphine Thorel</name>
</author>
<author><name sortKey="Claustres, Mireille" sort="Claustres, Mireille" uniqKey="Claustres M" first="Mireille" last="Claustres">Mireille Claustres</name>
</author>
<author><name sortKey="Sylvie, Tuffery Iraud" sort="Sylvie, Tuffery Iraud" uniqKey="Sylvie T" first="Tuffery-Giraud" last="Sylvie">Tuffery-Giraud Sylvie</name>
</author>
<author><name sortKey="Gwenaelle, Collod Eroud" sort="Gwenaelle, Collod Eroud" uniqKey="Gwenaelle C" first="Collod-Béroud" last="Gwenaelle">Collod-Béroud Gwenaelle</name>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">ISTEX</idno>
<idno type="RBID">ISTEX:3954C47DECAEA04646A277D406341B24B6300538</idno>
<date when="2007" year="2007">2007</date>
<idno type="doi">10.1002/mds.21391</idno>
<idno type="url">https://api.istex.fr/document/3954C47DECAEA04646A277D406341B24B6300538/fulltext/pdf</idno>
<idno type="wicri:Area/Istex/Corpus">003221</idno>
<idno type="wicri:Area/Istex/Curation">003221</idno>
<idno type="wicri:Area/Istex/Checkpoint">001949</idno>
<idno type="wicri:doubleKey">0885-3185:2007:Frederic M:first:determination:of</idno>
<idno type="wicri:source">PubMed</idno>
<idno type="RBID">pubmed:17290457</idno>
<idno type="wicri:Area/PubMed/Corpus">002837</idno>
<idno type="wicri:Area/PubMed/Curation">002837</idno>
<idno type="wicri:Area/PubMed/Checkpoint">002813</idno>
<idno type="wicri:Area/Ncbi/Merge">001B02</idno>
<idno type="wicri:Area/Ncbi/Curation">001B02</idno>
<idno type="wicri:Area/Ncbi/Checkpoint">001B02</idno>
<idno type="wicri:doubleKey">0885-3185:2007:Frederic M:first:determination:of</idno>
<idno type="wicri:Area/Main/Merge">003D63</idno>
<idno type="wicri:source">INIST</idno>
<idno type="RBID">Pascal:07-0263072</idno>
<idno type="wicri:Area/PascalFrancis/Corpus">001685</idno>
<idno type="wicri:Area/PascalFrancis/Curation">001636</idno>
<idno type="wicri:Area/PascalFrancis/Checkpoint">001671</idno>
<idno type="wicri:doubleKey">0885-3185:2007:Frederic M:first:determination:of</idno>
<idno type="wicri:Area/Main/Merge">004261</idno>
<idno type="wicri:Area/Main/Curation">002E41</idno>
<idno type="wicri:Area/Main/Exploration">002E41</idno>
<idno type="wicri:Area/France/Extraction">000334</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">First determination of the incidence of the unique TOR1A gene mutation, c.907delGAG, in a Mediterranean population</title>
<author><name sortKey="Frederic, Melissa" sort="Frederic, Melissa" uniqKey="Frederic M" first="Mélissa" last="Frédéric">Mélissa Frédéric</name>
<affiliation wicri:level="3"><country xml:lang="fr">France</country>
<wicri:regionArea>INSERM, U827, Montpellier, F‐34000</wicri:regionArea>
<placeName><region type="region" nuts="2">Languedoc-Roussillon-Midi-Pyrénées</region>
<region type="old region" nuts="2">Languedoc-Roussillon</region>
</placeName>
</affiliation>
<affiliation wicri:level="4"><country xml:lang="fr">France</country>
<wicri:regionArea>Université Montpellier 1, UFR Médecine, Montpellier, F‐34000</wicri:regionArea>
<placeName><region type="region" nuts="2">Languedoc-Roussillon-Midi-Pyrénées</region>
<region type="old region" nuts="2">Languedoc-Roussillon</region>
</placeName>
<orgName type="university">Université Montpellier 1</orgName>
</affiliation>
</author>
<author><name sortKey="Lucarz, Estelle" sort="Lucarz, Estelle" uniqKey="Lucarz E" first="Estelle" last="Lucarz">Estelle Lucarz</name>
<affiliation wicri:level="3"><country xml:lang="fr">France</country>
<wicri:regionArea>INSERM, U827, Montpellier, F‐34000</wicri:regionArea>
<placeName><region type="region" nuts="2">Languedoc-Roussillon-Midi-Pyrénées</region>
<region type="old region" nuts="2">Languedoc-Roussillon</region>
</placeName>
</affiliation>
<affiliation wicri:level="4"><country xml:lang="fr">France</country>
<wicri:regionArea>Université Montpellier 1, UFR Médecine, Montpellier, F‐34000</wicri:regionArea>
<placeName><region type="region" nuts="2">Languedoc-Roussillon-Midi-Pyrénées</region>
<region type="old region" nuts="2">Languedoc-Roussillon</region>
</placeName>
<orgName type="university">Université Montpellier 1</orgName>
</affiliation>
</author>
<author><name sortKey="Monino, Christine" sort="Monino, Christine" uniqKey="Monino C" first="Christine" last="Monino">Christine Monino</name>
<affiliation wicri:level="3"><country xml:lang="fr">France</country>
<wicri:regionArea>INSERM, U827, Montpellier, F‐34000</wicri:regionArea>
<placeName><region type="region" nuts="2">Languedoc-Roussillon-Midi-Pyrénées</region>
<region type="old region" nuts="2">Languedoc-Roussillon</region>
</placeName>
</affiliation>
<affiliation wicri:level="4"><country xml:lang="fr">France</country>
<wicri:regionArea>Université Montpellier 1, UFR Médecine, Montpellier, F‐34000</wicri:regionArea>
<placeName><region type="region" nuts="2">Languedoc-Roussillon-Midi-Pyrénées</region>
<region type="old region" nuts="2">Languedoc-Roussillon</region>
</placeName>
<orgName type="university">Université Montpellier 1</orgName>
</affiliation>
</author>
<author><name sortKey="Saquet, Celine" sort="Saquet, Celine" uniqKey="Saquet C" first="Céline" last="Saquet">Céline Saquet</name>
<affiliation wicri:level="3"><country xml:lang="fr">France</country>
<wicri:regionArea>CHU Montpellier, Laboratoire de Génétique Moléculaire, Hôpital Arnaud de Villeneuve, Montpellier, F‐34000</wicri:regionArea>
<placeName><region type="region" nuts="2">Languedoc-Roussillon-Midi-Pyrénées</region>
<region type="old region" nuts="2">Languedoc-Roussillon</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Thorel, Delphine" sort="Thorel, Delphine" uniqKey="Thorel D" first="Delphine" last="Thorel">Delphine Thorel</name>
<affiliation wicri:level="3"><country xml:lang="fr">France</country>
<wicri:regionArea>CHU Montpellier, Laboratoire de Génétique Moléculaire, Hôpital Arnaud de Villeneuve, Montpellier, F‐34000</wicri:regionArea>
<placeName><region type="region" nuts="2">Languedoc-Roussillon-Midi-Pyrénées</region>
<region type="old region" nuts="2">Languedoc-Roussillon</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Claustres, Mireille" sort="Claustres, Mireille" uniqKey="Claustres M" first="Mireille" last="Claustres">Mireille Claustres</name>
<affiliation wicri:level="3"><country xml:lang="fr">France</country>
<wicri:regionArea>INSERM, U827, Montpellier, F‐34000</wicri:regionArea>
<placeName><region type="region" nuts="2">Languedoc-Roussillon-Midi-Pyrénées</region>
<region type="old region" nuts="2">Languedoc-Roussillon</region>
</placeName>
</affiliation>
<affiliation wicri:level="4"><country xml:lang="fr">France</country>
<wicri:regionArea>Université Montpellier 1, UFR Médecine, Montpellier, F‐34000</wicri:regionArea>
<placeName><region type="region" nuts="2">Languedoc-Roussillon-Midi-Pyrénées</region>
<region type="old region" nuts="2">Languedoc-Roussillon</region>
</placeName>
<orgName type="university">Université Montpellier 1</orgName>
</affiliation>
<affiliation wicri:level="3"><country xml:lang="fr">France</country>
<wicri:regionArea>CHU Montpellier, Laboratoire de Génétique Moléculaire, Hôpital Arnaud de Villeneuve, Montpellier, F‐34000</wicri:regionArea>
<placeName><region type="region" nuts="2">Languedoc-Roussillon-Midi-Pyrénées</region>
<region type="old region" nuts="2">Languedoc-Roussillon</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Sylvie, Tuffery Iraud" sort="Sylvie, Tuffery Iraud" uniqKey="Sylvie T" first="Tuffery-Giraud" last="Sylvie">Tuffery-Giraud Sylvie</name>
<affiliation wicri:level="3"><country xml:lang="fr">France</country>
<wicri:regionArea>INSERM, U827, Montpellier, F‐34000</wicri:regionArea>
<placeName><region type="region" nuts="2">Languedoc-Roussillon-Midi-Pyrénées</region>
<region type="old region" nuts="2">Languedoc-Roussillon</region>
</placeName>
</affiliation>
<affiliation wicri:level="4"><country xml:lang="fr">France</country>
<wicri:regionArea>Université Montpellier 1, UFR Médecine, Montpellier, F‐34000</wicri:regionArea>
<placeName><region type="region" nuts="2">Languedoc-Roussillon-Midi-Pyrénées</region>
<region type="old region" nuts="2">Languedoc-Roussillon</region>
</placeName>
<orgName type="university">Université Montpellier 1</orgName>
</affiliation>
</author>
<author><name sortKey="Gwenaelle, Collod Eroud" sort="Gwenaelle, Collod Eroud" uniqKey="Gwenaelle C" first="Collod-Béroud" last="Gwenaelle">Collod-Béroud Gwenaelle</name>
<affiliation wicri:level="3"><country xml:lang="fr">France</country>
<wicri:regionArea>INSERM, U827, Montpellier, F‐34000</wicri:regionArea>
<placeName><region type="region" nuts="2">Languedoc-Roussillon-Midi-Pyrénées</region>
<region type="old region" nuts="2">Languedoc-Roussillon</region>
</placeName>
</affiliation>
<affiliation wicri:level="4"><country xml:lang="fr">France</country>
<wicri:regionArea>Université Montpellier 1, UFR Médecine, Montpellier, F‐34000</wicri:regionArea>
<placeName><region type="region" nuts="2">Languedoc-Roussillon-Midi-Pyrénées</region>
<region type="old region" nuts="2">Languedoc-Roussillon</region>
</placeName>
<orgName type="university">Université Montpellier 1</orgName>
</affiliation>
</author>
</analytic>
<monogr></monogr>
<series><title level="j">Movement Disorders</title>
<title level="j" type="abbrev">Mov. Disord.</title>
<idno type="ISSN">0885-3185</idno>
<idno type="eISSN">1531-8257</idno>
<imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher>
<pubPlace>Hoboken</pubPlace>
<date type="published" when="2007-04-30">2007-04-30</date>
<biblScope unit="vol">22</biblScope>
<biblScope unit="issue">6</biblScope>
<biblScope unit="page" from="884">884</biblScope>
<biblScope unit="page" to="888">888</biblScope>
</imprint>
<idno type="ISSN">0885-3185</idno>
</series>
<idno type="istex">3954C47DECAEA04646A277D406341B24B6300538</idno>
<idno type="DOI">10.1002/mds.21391</idno>
<idno type="ArticleID">MDS21391</idno>
</biblStruct>
</sourceDesc>
<seriesStmt><idno type="ISSN">0885-3185</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>DNA (blood)</term>
<term>DNA (genetics)</term>
<term>DYT1</term>
<term>Dystonia</term>
<term>France</term>
<term>Gene Amplification</term>
<term>Humans</term>
<term>Incidence</term>
<term>Infant, Newborn</term>
<term>Mediterranean Islands</term>
<term>Molecular Chaperones (genetics)</term>
<term>Mutation</term>
<term>Nervous system diseases</term>
<term>Sequence Deletion</term>
<term>TOR1A</term>
<term>incidence</term>
<term>primary dystonia</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="blood" xml:lang="en"><term>DNA</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>DNA</term>
<term>Molecular Chaperones</term>
</keywords>
<keywords scheme="MESH" type="geographic" xml:lang="en"><term>France</term>
<term>Mediterranean Islands</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Gene Amplification</term>
<term>Humans</term>
<term>Incidence</term>
<term>Infant, Newborn</term>
<term>Mutation</term>
<term>Sequence Deletion</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Dystonie</term>
<term>Incidence</term>
<term>Mutation</term>
<term>Système nerveux pathologie</term>
</keywords>
<keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>France</term>
</keywords>
</textClass>
<langUsage><language ident="en">en</language>
</langUsage>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">The c.907delGAG mutation in the TOR1A gene (also named DYT1) is the most common cause of early‐onset primary dystonia. The mutation frequency and prevalence have so far been only estimated from rare clinical epidemiological reports in some populations. The purpose of this study was to investigate the incidence at birth of the c.907delGAG mutation in a French‐representative mixed population of newborn from South‐Eastern France. We applied an automated high‐throughput genotyping method to dried blood spot samples from 12,000 newborns registered in Hérault between 2004 and 2005. Only one allele was found to carry the mutation, which allows to determine its incidence at birth as 1/12,000 per year in this area. © 2007 Movement Disorder Society</div>
</front>
</TEI>
<affiliations><list><country><li>France</li>
</country>
<region><li>Languedoc-Roussillon</li>
<li>Languedoc-Roussillon-Midi-Pyrénées</li>
</region>
<orgName><li>Université Montpellier 1</li>
</orgName>
</list>
<tree><country name="France"><region name="Languedoc-Roussillon-Midi-Pyrénées"><name sortKey="Frederic, Melissa" sort="Frederic, Melissa" uniqKey="Frederic M" first="Mélissa" last="Frédéric">Mélissa Frédéric</name>
</region>
<name sortKey="Claustres, Mireille" sort="Claustres, Mireille" uniqKey="Claustres M" first="Mireille" last="Claustres">Mireille Claustres</name>
<name sortKey="Claustres, Mireille" sort="Claustres, Mireille" uniqKey="Claustres M" first="Mireille" last="Claustres">Mireille Claustres</name>
<name sortKey="Claustres, Mireille" sort="Claustres, Mireille" uniqKey="Claustres M" first="Mireille" last="Claustres">Mireille Claustres</name>
<name sortKey="Frederic, Melissa" sort="Frederic, Melissa" uniqKey="Frederic M" first="Mélissa" last="Frédéric">Mélissa Frédéric</name>
<name sortKey="Gwenaelle, Collod Eroud" sort="Gwenaelle, Collod Eroud" uniqKey="Gwenaelle C" first="Collod-Béroud" last="Gwenaelle">Collod-Béroud Gwenaelle</name>
<name sortKey="Gwenaelle, Collod Eroud" sort="Gwenaelle, Collod Eroud" uniqKey="Gwenaelle C" first="Collod-Béroud" last="Gwenaelle">Collod-Béroud Gwenaelle</name>
<name sortKey="Lucarz, Estelle" sort="Lucarz, Estelle" uniqKey="Lucarz E" first="Estelle" last="Lucarz">Estelle Lucarz</name>
<name sortKey="Lucarz, Estelle" sort="Lucarz, Estelle" uniqKey="Lucarz E" first="Estelle" last="Lucarz">Estelle Lucarz</name>
<name sortKey="Monino, Christine" sort="Monino, Christine" uniqKey="Monino C" first="Christine" last="Monino">Christine Monino</name>
<name sortKey="Monino, Christine" sort="Monino, Christine" uniqKey="Monino C" first="Christine" last="Monino">Christine Monino</name>
<name sortKey="Saquet, Celine" sort="Saquet, Celine" uniqKey="Saquet C" first="Céline" last="Saquet">Céline Saquet</name>
<name sortKey="Sylvie, Tuffery Iraud" sort="Sylvie, Tuffery Iraud" uniqKey="Sylvie T" first="Tuffery-Giraud" last="Sylvie">Tuffery-Giraud Sylvie</name>
<name sortKey="Sylvie, Tuffery Iraud" sort="Sylvie, Tuffery Iraud" uniqKey="Sylvie T" first="Tuffery-Giraud" last="Sylvie">Tuffery-Giraud Sylvie</name>
<name sortKey="Thorel, Delphine" sort="Thorel, Delphine" uniqKey="Thorel D" first="Delphine" last="Thorel">Delphine Thorel</name>
</country>
</tree>
</affiliations>
</record>

Pour manipuler ce document sous Unix (Dilib)

EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/France/Analysis

HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 000334 | SxmlIndent | more

HfdSelect -h $EXPLOR_AREA/Data/France/Analysis/biblio.hfd -nk 000334 | SxmlIndent | more

Pour mettre un lien sur cette page dans le réseau Wicri

{{Explor lien
   |wiki=    Wicri/Santé
   |area=    MovDisordV3
   |flux=    France
   |étape=   Analysis
   |type=    RBID
   |clé=     ISTEX:3954C47DECAEA04646A277D406341B24B6300538
   |texte=   First determination of the incidence of the unique TOR1A gene mutation, c.907delGAG, in a Mediterranean population
}}

This area was generated with Dilib version V0.6.23.
Data generation: Sun Jul 3 12:29:32 2016. Site generation: Wed Feb 14 10:52:30 2024

Movement Disorders (revue)

First determination of the incidence of the unique TOR1A gene mutation, c.907delGAG, in a Mediterranean population

First determination of the incidence of the unique TOR1A gene mutation, c.907delGAG, in a Mediterranean population

Source :

Descripteurs français

English descriptors

Abstract

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

Links to Exploration step

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)
	Attention, ce site est en cours de développement ! Attention, site généré par des moyens informatiques à partir de corpus bruts. Les informations ne sont donc pas validées.