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The 15q11.2 BP1–BP2 Microdeletion Syndrome: A Review

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.,...

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Autores principales: Cox, Devin M., Butler, Merlin G.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4346944/
https://www.ncbi.nlm.nih.gov/pubmed/25689425
http://dx.doi.org/10.3390/ijms16024068
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author Cox, Devin M.
Butler, Merlin G.
author_facet Cox, Devin M.
Butler, Merlin G.
author_sort Cox, Devin M.
collection PubMed
description 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.
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spelling pubmed-43469442015-04-03 The 15q11.2 BP1–BP2 Microdeletion Syndrome: A Review Cox, Devin M. Butler, Merlin G. Int J Mol Sci Review 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. MDPI 2015-02-13 /pmc/articles/PMC4346944/ /pubmed/25689425 http://dx.doi.org/10.3390/ijms16024068 Text en © 2015 by the authors; licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Review
Cox, Devin M.
Butler, Merlin G.
The 15q11.2 BP1–BP2 Microdeletion Syndrome: A Review
title The 15q11.2 BP1–BP2 Microdeletion Syndrome: A Review
title_full The 15q11.2 BP1–BP2 Microdeletion Syndrome: A Review
title_fullStr The 15q11.2 BP1–BP2 Microdeletion Syndrome: A Review
title_full_unstemmed The 15q11.2 BP1–BP2 Microdeletion Syndrome: A Review
title_short The 15q11.2 BP1–BP2 Microdeletion Syndrome: A Review
title_sort 15q11.2 bp1–bp2 microdeletion syndrome: a review
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4346944/
https://www.ncbi.nlm.nih.gov/pubmed/25689425
http://dx.doi.org/10.3390/ijms16024068
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