MovDisordV3, PascalFrancis, Curation, bibRecord, 001636

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

Identifieur interne : 001636 ( PascalFrancis/Curation ); précédent : 001635; suivant : 001637

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

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

Source :

Movement disorders [ 0885-3185 ] ; 2007.

RBID : Pascal:07-0263072

Descripteurs français

Pascal (Inist)
- Système nerveux pathologie, Dystonie, Incidence, Mutation.

English descriptors

KwdEn :
- Dystonia, Incidence, Mutation, Nervous system diseases.

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.

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A08	`01`	`1`	`ENG`	`@1 First determination of the incidence of the unique TOR1A gene mutation, c.907delGAG, in a mediterranean population`
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A11	`02`	`1`		`@1 LUCARZ (Estelle)`
A11	`03`	`1`		`@1 MONINO (Christine)`
A11	`04`	`1`		`@1 SAQUET (Céline)`
A11	`05`	`1`		`@1 THOREL (Delphine)`
A11	`06`	`1`		`@1 CLAUSTRES (Mireille)`
A11	`07`	`1`		`@1 TUFFERY-GIRAUD (Sylvie)`
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A14	`03`			`@1 CHU Montpellier, Laboratoire de Génétique Moléculaire, Hôpital Arnaud de Villeneuve @2 Montpellier, 34000 @3 FRA @Z 4 aut. @Z 5 aut. @Z 6 aut.`
A20				`@1 884-888`
A21				`@1 2007`
A23	`01`			`@0 ENG`
A43	`01`			`@1 INIST @2 20953 @5 354000149445250230`
A44				`@0 0000 @1 © 2007 INIST-CNRS. All rights reserved.`
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C01	`01`		`ENG`	@0 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.
C02	`01`	`X`		`@0 002B17`
C02	`02`	`X`		`@0 002B17G`
C02	`03`	`X`		`@0 002B17H`
C03	`01`	`X`	`FRE`	`@0 Système nerveux pathologie @5 01`
C03	`01`	`X`	`ENG`	`@0 Nervous system diseases @5 01`
C03	`01`	`X`	`SPA`	`@0 Sistema nervioso patología @5 01`
C03	`02`	`X`	`FRE`	`@0 Dystonie @5 02`
C03	`02`	`X`	`ENG`	`@0 Dystonia @5 02`
C03	`02`	`X`	`SPA`	`@0 Distonía @5 02`
C03	`03`	`X`	`FRE`	`@0 Incidence @5 09`
C03	`03`	`X`	`ENG`	`@0 Incidence @5 09`
C03	`03`	`X`	`SPA`	`@0 Incidencia @5 09`
C03	`04`	`X`	`FRE`	`@0 Mutation @5 10`
C03	`04`	`X`	`ENG`	`@0 Mutation @5 10`
C03	`04`	`X`	`SPA`	`@0 Mutación @5 10`
C07	`01`	`X`	`FRE`	`@0 Extrapyramidal syndrome @5 37`
C07	`01`	`X`	`ENG`	`@0 Extrapyramidal syndrome @5 37`
C07	`01`	`X`	`SPA`	`@0 Extrapiramidal síndrome @5 37`
C07	`02`	`X`	`FRE`	`@0 Mouvement involontaire @5 38`
C07	`02`	`X`	`ENG`	`@0 Involuntary movement @5 38`
C07	`02`	`X`	`SPA`	`@0 Movimiento involuntario @5 38`
C07	`03`	`X`	`FRE`	`@0 Muscle strié pathologie @5 39`
C07	`03`	`X`	`ENG`	`@0 Striated muscle disease @5 39`
C07	`03`	`X`	`SPA`	`@0 Músculo estriado patología @5 39`
C07	`04`	`X`	`FRE`	`@0 Trouble neurologique @5 40`
C07	`04`	`X`	`ENG`	`@0 Neurological disorder @5 40`
C07	`04`	`X`	`SPA`	`@0 Trastorno neurológico @5 40`
C07	`05`	`X`	`FRE`	`@0 Encéphale pathologie @5 41`
C07	`05`	`X`	`ENG`	`@0 Cerebral disorder @5 41`
C07	`05`	`X`	`SPA`	`@0 Encéfalo patología @5 41`
C07	`06`	`X`	`FRE`	`@0 Système nerveux central pathologie @5 42`
C07	`06`	`X`	`ENG`	`@0 Central nervous system disease @5 42`
C07	`06`	`X`	`SPA`	`@0 Sistema nervosio central patología @5 42`
N21				`@1 176`
N44	`01`			`@1 OTO`
N82				`@1 OTO`

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Pascal:07-0263072

Le document en format XML

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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">First determination of the incidence of the unique TOR1A gene mutation, c.907delGAG, in a mediterranean population</title>
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<author><name sortKey="Saquet, Celine" sort="Saquet, Celine" uniqKey="Saquet C" first="Céline" last="Saquet">Céline Saquet</name>
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<author><name sortKey="Thorel, Delphine" sort="Thorel, Delphine" uniqKey="Thorel D" first="Delphine" last="Thorel">Delphine Thorel</name>
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<author><name sortKey="Claustres, Mireille" sort="Claustres, Mireille" uniqKey="Claustres M" first="Mireille" last="Claustres">Mireille Claustres</name>
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<author><name sortKey="Tuffery Giraud, Sylvie" sort="Tuffery Giraud, Sylvie" uniqKey="Tuffery Giraud S" first="Sylvie" last="Tuffery-Giraud">Sylvie Tuffery-Giraud</name>
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<author><name sortKey="Collod Beroud, Gwenaelle" sort="Collod Beroud, Gwenaelle" uniqKey="Collod Beroud G" first="Gwenaelle" last="Collod-Beroud">Gwenaelle Collod-Beroud</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>INSERM, U827</s1>
<s2>Montpellier, 34000</s2>
<s3>FRA</s3>
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<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>8 aut.</sZ>
</inist:fA14>
<country>France</country>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Université Montpellier 1, UFR Médecine</s1>
<s2>Montpellier, 34000</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>8 aut.</sZ>
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<country>France</country>
</affiliation>
</author>
</analytic>
<series><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
<idno type="ISSN">0885-3185</idno>
<imprint><date when="2007">2007</date>
</imprint>
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<seriesStmt><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
<idno type="ISSN">0885-3185</idno>
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</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Dystonia</term>
<term>Incidence</term>
<term>Mutation</term>
<term>Nervous system diseases</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Système nerveux pathologie</term>
<term>Dystonie</term>
<term>Incidence</term>
<term>Mutation</term>
</keywords>
</textClass>
</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.</div>
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<fA08 i1="01" i2="1" l="ENG"><s1>First determination of the incidence of the unique TOR1A gene mutation, c.907delGAG, in a mediterranean population</s1>
</fA08>
<fA11 i1="01" i2="1"><s1>FREDERIC (Mélissa)</s1>
</fA11>
<fA11 i1="02" i2="1"><s1>LUCARZ (Estelle)</s1>
</fA11>
<fA11 i1="03" i2="1"><s1>MONINO (Christine)</s1>
</fA11>
<fA11 i1="04" i2="1"><s1>SAQUET (Céline)</s1>
</fA11>
<fA11 i1="05" i2="1"><s1>THOREL (Delphine)</s1>
</fA11>
<fA11 i1="06" i2="1"><s1>CLAUSTRES (Mireille)</s1>
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<fA11 i1="07" i2="1"><s1>TUFFERY-GIRAUD (Sylvie)</s1>
</fA11>
<fA11 i1="08" i2="1"><s1>COLLOD-BEROUD (Gwenaelle)</s1>
</fA11>
<fA14 i1="01"><s1>INSERM, U827</s1>
<s2>Montpellier, 34000</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>8 aut.</sZ>
</fA14>
<fA14 i1="02"><s1>Université Montpellier 1, UFR Médecine</s1>
<s2>Montpellier, 34000</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>8 aut.</sZ>
</fA14>
<fA14 i1="03"><s1>CHU Montpellier, Laboratoire de Génétique Moléculaire, Hôpital Arnaud de Villeneuve</s1>
<s2>Montpellier, 34000</s2>
<s3>FRA</s3>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
</fA14>
<fA20><s1>884-888</s1>
</fA20>
<fA21><s1>2007</s1>
</fA21>
<fA23 i1="01"><s0>ENG</s0>
</fA23>
<fA43 i1="01"><s1>INIST</s1>
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<fA44><s0>0000</s0>
<s1>© 2007 INIST-CNRS. All rights reserved.</s1>
</fA44>
<fA45><s0>14 ref.</s0>
</fA45>
<fA47 i1="01" i2="1"><s0>07-0263072</s0>
</fA47>
<fA60><s1>P</s1>
<s3>CC</s3>
</fA60>
<fA61><s0>A</s0>
</fA61>
<fA64 i1="01" i2="1"><s0>Movement disorders</s0>
</fA64>
<fA66 i1="01"><s0>USA</s0>
</fA66>
<fC01 i1="01" l="ENG"><s0>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.</s0>
</fC01>
<fC02 i1="01" i2="X"><s0>002B17</s0>
</fC02>
<fC02 i1="02" i2="X"><s0>002B17G</s0>
</fC02>
<fC02 i1="03" i2="X"><s0>002B17H</s0>
</fC02>
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<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="ENG"><s0>Nervous system diseases</s0>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="SPA"><s0>Sistema nervioso patología</s0>
<s5>01</s5>
</fC03>
<fC03 i1="02" i2="X" l="FRE"><s0>Dystonie</s0>
<s5>02</s5>
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<fC03 i1="02" i2="X" l="ENG"><s0>Dystonia</s0>
<s5>02</s5>
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<fC03 i1="02" i2="X" l="SPA"><s0>Distonía</s0>
<s5>02</s5>
</fC03>
<fC03 i1="03" i2="X" l="FRE"><s0>Incidence</s0>
<s5>09</s5>
</fC03>
<fC03 i1="03" i2="X" l="ENG"><s0>Incidence</s0>
<s5>09</s5>
</fC03>
<fC03 i1="03" i2="X" l="SPA"><s0>Incidencia</s0>
<s5>09</s5>
</fC03>
<fC03 i1="04" i2="X" l="FRE"><s0>Mutation</s0>
<s5>10</s5>
</fC03>
<fC03 i1="04" i2="X" l="ENG"><s0>Mutation</s0>
<s5>10</s5>
</fC03>
<fC03 i1="04" i2="X" l="SPA"><s0>Mutación</s0>
<s5>10</s5>
</fC03>
<fC07 i1="01" i2="X" l="FRE"><s0>Extrapyramidal syndrome</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="ENG"><s0>Extrapyramidal syndrome</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="SPA"><s0>Extrapiramidal síndrome</s0>
<s5>37</s5>
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<fC07 i1="02" i2="X" l="FRE"><s0>Mouvement involontaire</s0>
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<fC07 i1="02" i2="X" l="ENG"><s0>Involuntary movement</s0>
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<fC07 i1="02" i2="X" l="SPA"><s0>Movimiento involuntario</s0>
<s5>38</s5>
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<fC07 i1="03" i2="X" l="FRE"><s0>Muscle strié pathologie</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="ENG"><s0>Striated muscle disease</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="SPA"><s0>Músculo estriado patología</s0>
<s5>39</s5>
</fC07>
<fC07 i1="04" i2="X" l="FRE"><s0>Trouble neurologique</s0>
<s5>40</s5>
</fC07>
<fC07 i1="04" i2="X" l="ENG"><s0>Neurological disorder</s0>
<s5>40</s5>
</fC07>
<fC07 i1="04" i2="X" l="SPA"><s0>Trastorno neurológico</s0>
<s5>40</s5>
</fC07>
<fC07 i1="05" i2="X" l="FRE"><s0>Encéphale pathologie</s0>
<s5>41</s5>
</fC07>
<fC07 i1="05" i2="X" l="ENG"><s0>Cerebral disorder</s0>
<s5>41</s5>
</fC07>
<fC07 i1="05" i2="X" l="SPA"><s0>Encéfalo patología</s0>
<s5>41</s5>
</fC07>
<fC07 i1="06" i2="X" l="FRE"><s0>Système nerveux central pathologie</s0>
<s5>42</s5>
</fC07>
<fC07 i1="06" i2="X" l="ENG"><s0>Central nervous system disease</s0>
<s5>42</s5>
</fC07>
<fC07 i1="06" i2="X" l="SPA"><s0>Sistema nervosio central patología</s0>
<s5>42</s5>
</fC07>
<fN21><s1>176</s1>
</fN21>
<fN44 i1="01"><s1>OTO</s1>
</fN44>
<fN82><s1>OTO</s1>
</fN82>
</pA>
</standard>
</inist>
</record>

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	Movement Disorders (revue)
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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

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