Treatment-resistant psychotic symptoms and the 15q11.2 BP1–BP2 (Burnside-Butler) deletion syndrome: case report and review of the literature

Martilias Farrell
Maya Lichtenstein
Matthew Harner
James Crowley
Dawn Filmyer
Gabriel Lazaro-Munoz
Tyler Dietterich
Lisa Bruno
Rita A Shaughnessy
Tamara Biondi
Stephen Burkholder
Jane Donmoyer
Jonathan Berg
Jin Szatkiewicz
Patrick Sullivan
Richard Josiassen


The 15q11.2 BP1-BP2 (Burnside-Butler) deletion is a rare copy number variant impacting four genes (NIPA1, NIPA2, CYFIP1, and TUBGCP5), and carries increased risks for developmental delay, intellectual disability, and neuropsychiatric disorders (attention-deficit/hyperactivity disorder, autism, and psychosis). In this case report (supported by extensive developmental information and medication history), we present the complex clinical portrait of a 44-year-old woman with 15q11.2 BP1-BP2 deletion syndrome and chronic, treatment-resistant psychotic symptoms who has resided nearly her entire adult life in a long-term state psychiatric institution. Diagnostic and treatment implications are discussed.