Potocki-Lupski syndrome (PTLS; OMIM #610883) is caused by overexpression of the RAI1gene due to chromosome 17p11.2 duplication and is characterized by developmental delays, intellectual disability, attention problems, hyperactivity, anxiety, congenital heart defect, and mild dysmorphic facial features. PTLS is typically de novo and has an autosomal dominant inheritance pattern with an estimated prevalence of 1 in 25,000 people worldwide.
RAI1 Potocki-Lupski Syndrome