Clinical and genetic aspects of the 15q11.2 BP1–BP2 microdeletion disorder

Butler, M. G.

doi:10.1111/jir.12382

Cited by 102Genomic variations and chromosomal abnormalitiesGenetic Syndromes and ImprintingGenetics and Neurodevelopmental Disorders

Clinical and genetic aspects of the 15q11.2 BP1–BP2 microdeletion disorder

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Butler, M. G.·2017·Journal of Intellectual Disability Research

DOI 10.1111/jir.12382PMC PMC5464369

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Abstract

Background: The 15q11.2 BP1–BP2 microdeletion (Burnside–Butler susceptibility locus) is an emerging condition with over 200 individuals reported in the literature. TUBGCP5, CFYIP1, NIPA1 and NIPA2 genes are located in this chromosome 15 region and when disturbed individually are known to cause neurological, cognitive or behavioural problems as well as playing a role in both Prader–Willi and Angelman syndromes. These syndromes were the first examples in humans of genomic imprinting and typically caused by a deletion but involving the distal chromosome 15q11–q13 breakpoint BP3 and proximally placed breakpoints BP1 or BP2 of different parental origin. The typical 15q11–q13 deletion involves BP1 and BP3 and the typical type II deletion at BP2 and BP3. Several studies have shown that individuals with the larger type I deletion found in both Prader–Willi and Angelman syndromes are reported with more severe neurodevelopmental symptoms compared to those individuals with the smaller type II deletion. Methods: The literature was reviewed and clinical and cytogenetic findings summarised in 200 individuals with this microdeletion along with the role of deleted genes in diagnosis, medical care and counseling of those affected and their family members. Results: Reported findings in this condition include developmental delays (73% of cases) and language impairment (67%) followed by motor delay (42%), attention deficit disorder/attention deficit hyperactivity disorder (35%) and autism spectrum disorder (27%). The de novo deletion frequency has been estimated at 5 to 22% with low penetrance possibly related to subclinical manifestation or incomplete clinical information on family members. A prevalence of 0.6 to 1.3% has been identified in one study for patients with neurological or behavioural problems presenting for genetic services and chromosomal microarray analysis. Conclusions: The summarised results indicate that chromosome 15q11.2 BP1–BP2 microdeletion is emerging as one of the most common cytogenetic abnormalities seen in individuals with intellectual impairment, autism spectrum disorder and other related behavioural or clinical findings, but more research is needed.

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Deletion of 15q11.2(BP1-BP2) leads to a two- to fourfold increase in the risk for schizophrenia, autism and intellectual disability.
“Deletion of 15q11.2(BP1–BP2) leads to a two to fourfold increase in the risk for schizophrenia, autism and intellectual disability [1–5].”
From Linking haploinsufficiency of the autism- and schizophrenia-associated gene Cyfip1 with striatal-limbic-cortical network dysfunction and cognitive inflexibility (2024) · cites this paper as [4]
The Introduction (Clinical Description; page not provided) estimates a two- to fourfold higher prevalence of the deletion compared with controls, and the Results and Discussion (Genetic Services and Genetic Counseling; page not provided) lists schizophrenia, autism and intellectual disability among findings in affected individuals. It does not give a two- to fourfold risk increase for each of those three conditions; it also describes low penetrance, so “leads to” overstates the relationship. (LLM, conf=0.86)
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Linking haploinsufficiency of the autism- and schizophrenia-associated gene Cyfip1 with striatal-limbic-cortical network dysfunction and cognitive inflexibility
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Authors: Butler, M. G.
Affiliations: University of Kansas Medical Center (US)
Corresponding author: Butler, M. G.
ORCID: Butler, M. G.
Venue: Journal of Intellectual Disability Research
Publisher: Wiley
Published: 2017-04-07
Volume: 61
Issue: 6
Pages: 568-579
ISSN: 0964-2633 (ISSN-L)
1365-2788
DOI: 10.1111/jir.12382
PMC: PMC5464369
OpenAlex: W2604781880
Cited by: 102
References: 51
Citations by year: 2026: 5 · 2025: 4 · 2024: 13 · 2023: 12 · 2022: 13 · 2021: 12 · 2020: 18 · 2019: 11 · 2018: 9 · 2017: 3
FWCI: 1.44
Type: journal article
Language: en
Open access: green
www.ncbi.nlm.nih.gov
Licence: onlinelibrary.wiley.com/termsAndConditions#vor (vor)
Locations: Journal of Intellectual Disability Research (publishedVersion)
PubMed (publishedVersion)
Europe PMC (PubMed Central) (acceptedVersion)
PubMed Central (acceptedVersion)
Funders: National Institute of Child Health and Human Development (HD02528)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Syndromes and Imprinting
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
Keywords: chromosome 15q11-q13 deletion, Prader-Willi syndrome, Angelman syndrome, genomic imprinting, NIPA1, developmental delay, language impairment, autism spectrum disorder, attention deficit hyperactivity disorder, de novo deletion, intellectual disability, genetic counseling, prevalence
MeSH terms: Chromosome Aberrations, Chromosomes, Human, Pair 15, Humans, Intellectual Disability, Neurodevelopmental Disorders

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Clinical and genetic aspects of the 15q11.2 BP1–BP2 microdeletion disorder

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