RAI1 Smith-Magenis Syndrome

This website was created to share and collect information about clinical management and research projects to gather more knowledge and provide better treatment of patients with alterations in the RAI1gene. Included in this website information on patients with copy number variations and / or pathogenic variations in the RAI1gene, including clinical data, molecular data, management, and research options.

Smith-Magenis syndrome (SMS) is caused by loss of function of one copy of the RAI1gene, which may be due to copy number variation caused by deletion of 17p11.2 including RAI1 or due to a pathogenic variant in RAI1leading to loss of function.

Not all individuals with a copy number variation of the RAI1gene have all the features for these syndromes.

Sarah H Elsea, PhD, FACMG, Baylor College of Medicine, Houston, Texas, USA, elsea@bcm.edu
Theresa Wilson, MS, RD, Rare Disease Research Coordinator, Baylor College of Medicine, Houston, Texas, USA, tawilson@bcm.edu