First determination of the incidence of the unique TOR1A gene mutation, c.907delGAG, in a Mediterranean population.
Identifieur interne : 001B02 ( Ncbi/Curation ); précédent : 001B01; suivant : 001B03First determination of the incidence of the unique TOR1A gene mutation, c.907delGAG, in a Mediterranean population.
Auteurs : Mélissa Frédéric [France] ; Estelle Lucarz ; Christine Monino ; Céline Saquet ; Delphine Thorel ; Mireille Claustres ; Sylvie Tuffery-Giraud ; Gwenaelle Collod-BéroudSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2007.
Descripteurs français
- Wicri :
- geographic : France.
English descriptors
- KwdEn :
- 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.
DOI: 10.1002/mds.21391
PubMed: 17290457
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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="Tuffery Giraud, Sylvie" sort="Tuffery Giraud, Sylvie" uniqKey="Tuffery Giraud S" first="Sylvie" last="Tuffery-Giraud">Sylvie Tuffery-Giraud</name></author><author><name sortKey="Collod Beroud, Gwenaelle" sort="Collod Beroud, Gwenaelle" uniqKey="Collod Beroud G" first="Gwenaelle" last="Collod-Béroud">Gwenaelle Collod-Béroud</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2007">2007</date><idno type="doi">10.1002/mds.21391</idno><idno 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nuts="2">Languedoc-Roussillon</region></placeName></affiliation></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="Tuffery Giraud, Sylvie" sort="Tuffery Giraud, Sylvie" uniqKey="Tuffery Giraud S" first="Sylvie" last="Tuffery-Giraud">Sylvie Tuffery-Giraud</name></author><author><name sortKey="Collod Beroud, Gwenaelle" sort="Collod Beroud, Gwenaelle" uniqKey="Collod Beroud G" first="Gwenaelle" last="Collod-Béroud">Gwenaelle Collod-Béroud</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="ISSN">0885-3185</idno><imprint><date when="2007" type="published">2007</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>DNA (blood)</term><term>DNA (genetics)</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>Sequence Deletion</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="Wicri" type="geographic" xml:lang="fr"><term>France</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></front></TEI></record>Pour manipuler ce document sous Unix (Dilib)
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