title: 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 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.
authors.affiliation: INSERM, U827, Montpellier, F-34000, France.
authors.forename: Mélissa
authors.initials: M
authors.lastname: Frédéric
authors.forename: Estelle
authors.initials: E
authors.lastname: Lucarz
authors.forename: Christine
authors.initials: C
authors.lastname: Monino
authors.forename: Céline
authors.initials: C
authors.lastname: Saquet
authors.forename: Delphine
authors.initials: D
authors.lastname: Thorel
authors.forename: Mireille
authors.initials: M
authors.lastname: Claustres
authors.forename: Sylvie
authors.initials: S
authors.lastname: Tuffery-Giraud
authors.forename: Gwenaelle
authors.initials: G
authors.lastname: Collod-Béroud
mesh_terms: D004247:DNA / Q000097:blood / Q000235:genetics; D005602:France; D005784:Gene Amplification; D006801:Humans; D015994:Incidence; D007231:Infant, Newborn; D008521:Mediterranean Islands; D018832:Molecular Chaperones / Q000235:genetics*; D009154:Mutation; D017384:Sequence Deletion
chemical_list: D018832:Molecular Chaperones; C108175:TOR1A protein, human; D004247:DNA