15q11.2 microdeletion and FMR1 premutation in a family with intellectual disabilities and autism
Abstract
Genomic rearrangements of chromosome 15q11-q13 are responsible for diverse phenotypes including intellectual disabilities and autism. 15q11.2 deletion, implicating common PWS/AS breakpoints BP1-BP2, has been described in patients with delayed motor and speech development and behavioural problems. Here we report the clinical and molecular characterisation of a maternally inherited BP1-BP2 deletion in two siblings with intellectual, motor and speech delay, autistic syndrome disorder and several dysmorphic features. One of the patients was also a carrier of an FMR1 allele in the low premutation range. The four genes within the deletion were under-expressed in all deletion carriers but FMR1 mRNA levels remained normal. Our results suggest that BP1-BP2 deletion could be considered as a risk factor for neuropsychological phenotypes and that it presents with variable clinical expressivity.
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10/29 (35%) of individuals with the 15q11.2 BP1-BP2 microdeletion inherited their deletion from an abnormal parent.
“The review of literature from six published reports summarized by Cafferkey et al. [18] regarding information on the inheritance of the 15q11.2 BP1–BP2 microdeletion indicates that 22/43 (51%) of individuals with the microdeletion, where parental data were available, inherited their deletion from an apparently healthy parent while 10/29 (35%) of individuals inherited their deletion from an abnorma”
From The 15q11.2 BP1–BP2 Microdeletion Syndrome: A Review (2015) · cites this paper as [33]
22/43 (51%) of individuals with the 15q11.2 BP1-BP2 microdeletion, where parental data were available, inherited their deletion from an apparently healthy parent.
“The review of literature from six published reports summarized by Cafferkey et al. [18] regarding information on the inheritance of the 15q11.2 BP1–BP2 microdeletion indicates that 22/43 (51%) of individuals with the microdeletion, where parental data were available, inherited their deletion from an apparently healthy parent while 10/29 (35%) of individuals inherited their deletion from an abnorma”
From The 15q11.2 BP1–BP2 Microdeletion Syndrome: A Review (2015) · cites this paper as [33]
CYFIP1 is a candidate gene for intellectual disability, autism, schizophrenia and epilepsy.
“Cytoplasmic FMRP interacting protein 1 (CYFIP1) is a candidate gene for intellectual disability (ID), autism, schizophrenia and epilepsy.”
From New insights into the regulatory function of CYFIP1 in the context of WAVE- and FMRP-containing complexes (2017) · cites this paper as Madrigal et al., 2012
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- Authors
- Madrigal, I., Rodríguez-Revenga, L., Xunclà, M., & Milà, M.
- Affiliations
- Hospital Clínic de Barcelona (ES)
- Venue
- Gene
- Publisher
- Elsevier BV
- Published
- 2012-10
- Volume
- 508
- Issue
- 1
- Pages
- 92-95
- ISSN
- 0378-1119 (ISSN-L)
- OpenAlex
- W2034002330
- Cited by
- 23
- References
- 24
- Citations by year
- 2025: 1 · 2023: 1 · 2022: 1 · 2021: 1 · 2020: 3 · 2019: 3 · 2018: 1 · 2017: 1 · 2016: 3 · 2015: 2 · 2014: 5 · 2013: 1
- FWCI
- 1.54
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Gene (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Instituto de Salud Carlos III
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Neuroscience › Developmental Neuroscience › Williams Syndrome Research
- Keywords
- fragile X premutation, intellectual disability, autism spectrum disorder, dysmorphic features, gene expression, variable expressivity
- MeSH terms
- Autistic Disorder, Child, Chromosome Aberrations, Chromosomes, Human, Pair 15, Family, Female, Humans, Male, Intellectual Disability, Mutation, RNA, Messenger, Fragile X Messenger Ribonucleoprotein 1, Comparative Genomic Hybridization, Real-Time Polymerase Chain Reaction
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