Several years ago, while working as a clinical geneticist at the Imagine Institute of Genetic Diseases in Paris, Dr. Maya Chopra saw a child with unexplained intellectual disability, a cleft palate, distinctive facial features, and an inability to speak. Through a genetic analysis, she and her colleagues identified a rare variant in one copy of a gene called ANKRD17.
Intrigued, Dr. Chopra asked around about other cases. Today, she co-leads an international collaboration that has now described more than 30 individuals with rare ANKRD17 variants. The condition, a rare neurodevelopmental disorder, has been named for her: Chopra-Amiel-Gordon Syndrome. She now fields inquiries from physicians, labs, and families with the condition from around the world.
