First determination of the incidence of the unique TOR1A gene mutation, c.907delGAG, in a Mediterranean population
| Autor: | Mélissa Yana Frédéric, Mireille Claustres, Gwenaëlle Collod-Béroud, Christine Monino, Estelle Lucarz, Delphine Thorel, Céline Saquet, Sylvie Tuffery-Giraud |
|---|---|
| Přispěvatelé: | Laboratoire de génétique des maladies rares. Pathologie moleculaire, etudes fonctionnelles et banque de données génétiques, Institut National de la Santé et de la Recherche Médicale (INSERM) - IFR3 - Université Montpellier 1 (UM1) - Université de Montpellier (UM), Laboratoire de Génétique Moléculaire et chromosomique, Université Montpellier 1 (UM1) - Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier) - Hôpital Arnaud de Villeneuve, Laboratoire de génétique des maladies rares. Pathologie moleculaire, etudes fonctionnelles et banque de données génétiques (LGMR), IFR3, Université Montpellier 1 (UM1)-Université Montpellier 1 (UM1)-Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM), M.Y.F. is supported by a grant from Association Française contre les Myopathies (AFM).This work was supported by the LFCD-AMADYS and INSERM Dystonia National Network and Gis Maladies Rares., COLLOD-BEROUD, Gwenaëlle, Université Montpellier 1 (UM1)-IFR3, Université Montpellier 1 (UM1)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM) |
| Jazyk: | angličtina |
| Rok vydání: | 2007 |
| Předmět: |
Pathology
medicine.medical_specialty Population DYT1 [SDV.GEN] Life Sciences [q-bio]/Genetics Gene mutation TOR1A Mediterranean Islands 03 medical and health sciences 0302 clinical medicine medicine Humans Mutation frequency Allele education Genotyping Sequence Deletion 030304 developmental biology Genetics [SDV.GEN]Life Sciences [q-bio]/Genetics 0303 health sciences education.field_of_study business.industry Incidence (epidemiology) Gene Amplification Infant Newborn DNA 3. Good health Dried blood spot primary dystonia Neurology Mutation Mutation (genetic algorithm) incidence France Neurology (clinical) business 030217 neurology & neurosurgery Molecular Chaperones |
| Zdroj: | Mov Disord Mov Disord, 2007, pp.2007. 〈10.1002/mds.21391〉 Movement Disorders Movement Disorders, Wiley, 2007, 22 (6), pp.884-8. ⟨10.1002/mds.21391⟩ |
| ISSN: | 0885-3185 1531-8257 |
| DOI: | 10.1002/mds.21391〉 |
| Popis: | 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 H?ult 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. (c) 2007 Movement Disorder Society. |
| Databáze: | OpenAIRE |
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