First determination of the incidence of the unique TOR1A gene mutation, c.907delGAG, in a Mediterranean population
Identifieur interne : 003221 ( Istex/Curation ); précédent : 003220; suivant : 003222First 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.
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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
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DOI: 10.1002/mds.21391
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sort="Thorel, Delphine" uniqKey="Thorel D" first="Delphine" last="Thorel">Delphine Thorel</name><affiliation wicri:level="1"><mods:affiliation>CHU Montpellier, Laboratoire de Génétique Moléculaire, Hôpital Arnaud de Villeneuve, Montpellier, F‐34000, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>CHU Montpellier, Laboratoire de Génétique Moléculaire, Hôpital Arnaud de Villeneuve, Montpellier, F‐34000</wicri:regionArea></affiliation></author><author><name sortKey="Claustres, Mireille" sort="Claustres, Mireille" uniqKey="Claustres M" first="Mireille" last="Claustres">Mireille Claustres</name><affiliation wicri:level="1"><mods:affiliation>INSERM, U827, Montpellier, F‐34000, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>INSERM, U827, Montpellier, F‐34000</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Université Montpellier 1, UFR Médecine, Montpellier, F‐34000, 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wicri:level="1"><mods:affiliation>Université Montpellier 1, UFR Médecine, Montpellier, F‐34000, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Université Montpellier 1, UFR Médecine, Montpellier, F‐34000</wicri:regionArea></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="1"><mods:affiliation>INSERM, U827, Montpellier, F‐34000, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>INSERM, U827, Montpellier, F‐34000</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Université Montpellier 1, UFR Médecine, Montpellier, F‐34000, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Université Montpellier 1, UFR Médecine, Montpellier, F‐34000</wicri:regionArea></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>DYT1</term><term>TOR1A</term><term>incidence</term><term>primary dystonia</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></record>Pour manipuler ce document sous Unix (Dilib)
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