Smith-Magenis syndrome

Definition:

Smith-Magenis syndrome (SMS) is a complex neurobehavioral disorder caused by haploinsufficiency of the retinoic acid-induced 1 (RAI1) gene on chromosome 17p11.2. SMS is characterised by intellectual disability, self-injurious behaviours, sleep disturbance, obesity, and craniofacial and skeletal anomalies. Most SMS features are due to RAI1 haploinsufficiency, while the variability and severity of the disorder are modified by other genes in the 17p11.2 region.

References:

[1]. Sarah H Elsea, et al. Smith-Magenis syndrome. Eur J Hum Genet. 2008 Apr;16(4):412-21. [Content Brief]

[2]. Sarah H Elsea, et al. Smith-Magenis syndrome: haploinsufficiency of RAI1 results in altered gene regulation in neurological and metabolic pathways. Expert Rev Mol Med. 2011 Apr 19;13:e14. [Content Brief]

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