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

✍ Scribed by Mélissa Frédéric; Estelle Lucarz; Christine Monino; Céline Saquet; Delphine Thorel; Mireille Claustres; Tuffery-Giraud Sylvie; Collod-Béroud Gwenaelle

Publisher
John Wiley and Sons
Year
2007
Tongue
English
Weight
203 KB
Volume
22
Category
Article
ISSN
0885-3185

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✦ Synopsis

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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