The 15q11.2 BP1-BP2 microdeletion syndrome: a review

• Published in: International journal of molecular sciences Vol. 16; no. 2; pp. 4068 - 4082
• Main Authors: Cox, Devin M, Butler, Merlin G
• Format: Journal Article
• Language: English
• Published: Switzerland MDPI AG 13.02.2015; MDPI
• Subjects: 15q11.2 BP1–BP2 microdeletion; Attention Deficit Disorder with Hyperactivity - etiology; Autism; Autism Spectrum Disorder - etiology; Behavior disorders; Burnside-Butler syndrome; Chromosome Aberrations; chromosome breakpoints BP1 and BP2; Chromosomes; Chromosomes, Human, Pair 15; clinical and behavioral phenotype; Epilepsy - etiology; Genotype & phenotype; Humans; Intellectual Disability - epidemiology; Intellectual Disability - pathology; language and motor delays; Prader-Willi and Angelman syndromes; Review; Schizophrenia - etiology
• ISSN: 1422-0067; 1661-6596; 1422-0067
• DOI: 10.3390/ijms16024068

Patients with the 15q11.2 BP1-BP2 microdeletion can present with developmental and language delay, neurobehavioral disturbances and psychiatric problems. Autism, seizures, schizophrenia and mild dysmorphic features are less commonly seen. The 15q11.2 BP1-BP2 microdeletion involving four genes (i.e., TUBGCP5, CYFIP1, NIPA1, NIPA2) is emerging as a recognized syndrome with a prevalence ranging from 0.57%-1.27% of patients presenting for microarray analysis which is a two to four fold increase compared with controls. Review of clinical features from about 200 individuals were grouped into five categories and included developmental (73%) and speech (67%) delays; dysmorphic ears (46%) and palatal anomalies (46%); writing (60%) and reading (57%) difficulties, memory problems (60%) and verbal IQ scores ≤75 (50%); general behavioral problems, unspecified (55%) and abnormal brain imaging (43%). Other clinical features noted but not considered as common were seizures/epilepsy (26%), autism spectrum disorder (27%), attention deficit disorder (ADD)/attention deficit hyperactivity disorder (ADHD) (35%), schizophrenia/paranoid psychosis (20%) and motor delay (42%). Not all individuals with the deletion are clinically affected, yet the collection of findings appear to share biological pathways and presumed genetic mechanisms. Neuropsychiatric and behavior disturbances and mild dysmorphic features are associated with genomic imbalances of the 15q11.2 BP1-BP2 region, including microdeletions, but with an apparent incomplete penetrance and variable expressivity.