Cecile Pagan, Hany Goubran Botros, Karine Poirier, Anne Dumaine, Stéphane Jamain, Sarah Moreno, Arjan de Brouwer, Hilde Van Esch, Richard Delorme, Jean-Marie Launay, Andreas Tzschach, Vera Kalscheuer, Didier Lacombe, Sylvain Briault, Frédéric Laumonnier, Martine Raynaud, Bregje W van Bon, Marjolein H Willemsen, Marion Leboyer, Jamel Chelly, Thomas Bourgeron
BACKGROUND: Intellectual disability (ID) is frequently associated with sleep disorders. Treatment with melatonin demonstrated efficacy, suggesting that, at least in a subgroup of patients, the endogenous melatonin level may not be sufficient to adequately set the sleep-wake cycles. Mutations in ASMT gene, coding the last enzyme of the melatonin pathway have been reported as a risk factor for autism spectrum disorders (ASD), which are often comorbid with ID. Thus the aim of the study was to ascertain the genetic variability of ASMT in a large cohort of patients with ID and controls...
2011: BMC Medical Genetics