Illuminating Smith-Magenis syndrome

By Dr Nicola Davies

November 17th was Smith-Magenis syndrome (SMS) Awareness Day. We take a look at this complex development disorder and advances in pharmacological treatments for the condition.

SMS affects approximately 1 in 15,000-25,000 live births and is characterized by congenital abnormalities, including physical, cognitive and behavioral issues.1 An estimated 90% of SMS cases are caused by a deletion within chromosome 17p11.2, which hosts a number of genes, but it is believed that the syndrome is caused by the absence of the retinoic acid-induced 1 (RAI1) gene. The remaining 10% of SMS cases are caused by mutations in the gene.2 Little is known about the protein encoded by the gene and its functions, and the exact cause of the chromosome deletion is unknown as well.