| Modification Notes |
Smith-Magenis syndrome (SMS) is a rare disorder that is characterized by multiple congenital anomalies and mental retardation, with associated sleep disturbance and behavioral abnormalities. Autistic-like behaviors and symptoms begin to develop at about 18 months of age. Although there is no cure for SMS, treatment focuses on the management of its symptoms such as treating sleep disturbance, management of behaviors, speech and occupational therapies, as well as minor medical interventions. The genetic locus of 17p11.2 is deleted in patients affected with SMS. Many studies have linked the disorder to the haploinsufficiency of the retinoic acid-induced 1 (RAI1) gene that maps within the Smith-Magenis chromosome region. SMCR8 (Smith-Magenis syndrome chromosomal region candidate gene 8) is a 937 amino acid ubiquitously expressed protein that is encoded by a gene that also maps within the critical region of deletion in SMS. There are two isoforms of SMCR8 that are produced as a result of alternative splicing events. |