15q11.2 microdeletion syndrome

15q11.2 microdeletion syndrome (also known as 15q11.2 BP1-BP2 microdeletion syndrome or Burnside-Butler syndrome) is a genetic condition caused by a small deletion of approximately 500 kilobases on the long arm of chromosome 15, in the region between breakpoints BP1 and BP2. This region contains several genes, including NIPA1, NIPA2, CYFIP1, and TUBGCP5, which are believed to play roles in brain development and neuronal function. The deletion is considered a susceptibility locus with variable expressivity and incomplete penetrance, meaning that not all individuals carrying the deletion will develop symptoms, and those who do may be affected to varying degrees. The syndrome primarily affects the nervous system and is associated with developmental delays, speech and language difficulties, motor coordination problems, and learning disabilities. Behavioral features may include attention deficit hyperactivity disorder (ADHD), autism spectrum disorder, and other behavioral or psychiatric manifestations such as anxiety and mood disorders. Some individuals may also present with mild dysmorphic features, seizures or epilepsy, and congenital anomalies including heart defects, though these are not consistently observed. Neuroimaging studies in some affected individuals have shown structural brain abnormalities. Notably, a significant proportion of carriers identified through population studies are phenotypically normal, which complicates genetic counseling. There is currently no cure or specific targeted therapy for 15q11.2 microdeletion syndrome. Management is supportive and symptom-based, including early intervention programs, speech and language therapy, occupational therapy, physical therapy, and educational support. Behavioral and psychiatric symptoms may be managed with appropriate medications and psychological interventions. Regular developmental monitoring is recommended, and referral to specialists such as neurologists, cardiologists, or psychiatrists may be warranted depending on the individual's clinical presentation.

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