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.
Potocki-Lupski syndrome (PTLS) is caused by an extra copy of the RAI1gene, typically due to copy number variation of 17p11.2 resulting in duplication of RAI1.
Not all individuals with a copy number variation of the RAI1 gene 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