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

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 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.
Type de document :
Article dans une revue
Movement Disorders, Wiley, 2007, 22 (6), pp.884-8. 〈10.1002/mds.21391〉
Liste complète des métadonnées

Littérature citée [29 références]  Voir  Masquer  Télécharger

http://www.hal.inserm.fr/inserm-00143113
Contributeur : Gwenaëlle Collod-Beroud <>
Soumis le : mercredi 20 décembre 2017 - 15:24:34
Dernière modification le : mercredi 14 février 2018 - 01:18:52

Fichier

 Accès restreint
Fichier visible le : jamais

Connectez-vous pour demander l'accès au fichier

Identifiants

Collections

Citation

Mélissa Frédéric, Estelle Lucarz, Christine Monino, Céline Saquet, Delphine Thorel, et al.. First determination of the incidence of the unique TOR1A gene mutation, c.907delGAG, in a Mediterranean population.. Movement Disorders, Wiley, 2007, 22 (6), pp.884-8. 〈10.1002/mds.21391〉. 〈inserm-00143113v2〉

Partager

Métriques

Consultations de la notice

80