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

Authors

  • Mélissa Frédéric MS,

    1. INSERM, U827, Montpellier, F-34000, France
    2. Université Montpellier 1, UFR Médecine, Montpellier, F-34000, France
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  • Estelle Lucarz,

    1. INSERM, U827, Montpellier, F-34000, France
    2. Université Montpellier 1, UFR Médecine, Montpellier, F-34000, France
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  • Christine Monino PharmD,

    1. INSERM, U827, Montpellier, F-34000, France
    2. Université Montpellier 1, UFR Médecine, Montpellier, F-34000, France
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  • Céline Saquet,

    1. CHU Montpellier, Laboratoire de Génétique Moléculaire, Hôpital Arnaud de Villeneuve, Montpellier, F-34000, France
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  • Delphine Thorel BS,

    1. CHU Montpellier, Laboratoire de Génétique Moléculaire, Hôpital Arnaud de Villeneuve, Montpellier, F-34000, France
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  • Mireille Claustres MD, PhD,

    1. INSERM, U827, Montpellier, F-34000, France
    2. Université Montpellier 1, UFR Médecine, Montpellier, F-34000, France
    3. CHU Montpellier, Laboratoire de Génétique Moléculaire, Hôpital Arnaud de Villeneuve, Montpellier, F-34000, France
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  • Tuffery-Giraud Sylvie PhD,

    1. INSERM, U827, Montpellier, F-34000, France
    2. Université Montpellier 1, UFR Médecine, Montpellier, F-34000, France
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  • Collod-Béroud Gwenaelle PhD

    Corresponding author
    1. INSERM, U827, Montpellier, F-34000, France
    2. Université Montpellier 1, UFR Médecine, Montpellier, F-34000, France
    • INSERM U827, Institut Universitaire de Recherche Clinique, 641 av du doyen Gaston Giraud, 34093 Montpellier Cedex 5, France
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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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