Smith-Magenis syndrome

PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled “Circadian rhythm disorder in a rare disease: Smith-Magenis syndrome” (Mol Cell Endocrinol. 2006 May 22). Authors are De Leersnyder H, Claustrat B, Munnich A et al, from the Department of Genetics, Hospital Robert Debre, Paris, France. Smith-Magenis syndrome (SMS) is a clinically recognizable contiguous gene syndrome, caused by interstitial deletion of chromosome 17p11.2. The SMS phenotype include distinctive facial features, developmental delay and neurobehavioral abnormalities. The patients present major sleep disturbances ascribed to a phase shift of their circadian rhythm of melatonin with a paradoxical diurnal secretion of the hormone. SMS is the demonstration of biological basis for sleep disorder in a genetic disease. To access the full abstract of the article, click here.