Mutational analysis of neurotensin in familial restless legs syndrome

Authors

  • Alex Desautels PhD,

    1. Centre d'étude du sommeil, Hôpital du Sacré-Coeur de Montréal and Centre de recherche en sciences neurologiques, Université de Montréal, Québec, Canada
    2. Research Centre, Douglas Hospital, McGill University, Québec, Canada
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  • Gustavo Turecki MD, PhD,

    1. Research Centre, Douglas Hospital, McGill University, Québec, Canada
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  • Lan Xiong MD, PhD,

    1. Centre for Research in Neuroscience, Montreal General Hospital, McGill University, Québec, Canada
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  • Daniel Rochefort MSc,

    1. Centre for Research in Neuroscience, Montreal General Hospital, McGill University, Québec, Canada
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  • Jacques Montplaisir MD, PhD,

    1. Centre d'étude du sommeil, Hôpital du Sacré-Coeur de Montréal and Centre de recherche en sciences neurologiques, Université de Montréal, Québec, Canada
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  • Guy A. Rouleau MD, PhD

    Corresponding author
    1. Research Centre, Douglas Hospital, McGill University, Québec, Canada
    2. Centre for Research in Neuroscience, Montreal General Hospital, McGill University, Québec, Canada
    • Centre for Research in Neurosciences, Montreal General Hospital, 1650 Cedar Ave., Montréal, PQ H3G 1A4, Canada
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Abstract

A susceptibility locus for restless legs syndrome (RLS) has been identified recently on chromosome 12q. This region contains several transcribed genes including neurotensin (NTS), which, as an important modulator of the dopaminergic transmission, represents a strong functional and positional candidate in the context of RLS. In this study, NTS was evaluated for mutational analysis. A panel of 19 individuals from 4 families supporting linkage to 12q was investigated using a combined denaturing high-performance liquid chromatography (dHPLC) and direct sequencing method. Analysis of the NTS genomic sequence revealed 2 intronic polymorphisms and 1 variant located in the 5′ untranslated region (UTR). None of the observed variants co-segregated with RLS and no disease-associated polymorphisms were detected in any of the analyzed families. Based on these results, it is unlikely that NTS is the gene responsible for RLS in chromosome 12-linked families. © 2003 Movement Disorder Society

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