Burnside-Butler syndrome

Burnside-Butler syndrome, is a congenital disorder caused by microdeletion of DNA sequences involving four neurodevelopmental genes (TUBGCP5, CYFIP1, NIPA1, and NIPA2).[1] It is associated with a number of developmental and psychiatric disorders; however, not all individuals are clinically affected. More studies are needed to delineate the range of clinical presentation.[2][3]

The 15q11.2 BP1–BP2 microdeletion (Burnside-Butler syndrome) was the most common cytogenetic abnormality found in a recent study using ultra-high resolution chromosomal microarray analysis optimized for neurodevelopmental disorders of 10,351 consecutive patients presenting for genetic laboratory testing who had autism spectrum disorders (ASD).[4] It may represent an under-recognized contributor to the global prevalence of ASD, which is a common clinical manifestation of many rare genetic disorders, many of which can be identified by chromosome microarray analysis. The 15q11.2 BP1-BP2 microdeletion accounted for 9% of the top 85 genetic findings associated with neurodevelopmental disorders followed by the proximal 16p11.2 deletion syndrome (5%).[4]