Article
Mutation screening of ASMT, the last enzyme of the melatonin pathway, in a large sample of patients with intellectual disability.
BMC medical genetics - 20 Jan 2011
Pagan Cecile, Botros Hany Goubran, Poirier Karine, Dumaine Anne, Jamain Stéphane, Moreno Sarah, de Brouwer Arjan, Van Esch Hilde, Delorme Richard, Launay Jean-Marie, Tzschach Andreas, Kalscheuer Vera, Lacombe Didier, Briault Sylvain, Laumonnier Frédéric, Raynaud Martine, van Bon Bregje W, Willemsen Marjolein H, Leboyer Marion, Chelly Jamel, Bourgeron Thomas
Abstract excerpt
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...
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