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Mutations in the calcium-related gene IL1RAPL1 are associated with autism
Abstract
In a systematic sequencing screen of synaptic genes on the X chromosome, we have identified an autistic female without mental retardation (MR) who carries a de novo frameshift Ile367SerfsX6 mutation in Interleukin-1 Receptor Accessory Protein-Like 1 (IL1RAPL1), a gene implicated in calcium-regulated vesicle release and dendrite differentiation. We showed that the function of the resulting truncated IL1RAPL1 protein is severely altered in hippocampal neurons, by measuring its effect on neurite outgrowth activity. We also sequenced the coding region of the close related member IL1RAPL2 and of NCS-1/FREQ, which physically interacts with IL1RAPL1, in a cohort of subjects with autism. The screening failed to identify non-synonymous variant in IL1RAPL2, whereas a rare missense (R102Q) in NCS-1/FREQ was identified in one autistic patient. Furthermore, we identified by comparative genomic hybridization a large intragenic deletion of exons 3-7 of IL1RAPL1 in three brothers with autism and/or MR. This deletion causes a frameshift and the introduction of a premature stop codon, Ala28GlufsX15, at the very beginning of the protein. All together, our results indicate that mutations in IL1RAPL1 cause a spectrum of neurological impairments ranging from MR to high functioning autism.
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“Estimates indicate that there is up to a 50% increase in the odds of an ASD diagnosis among children who have a parent who has had an autoimmune disorder48,63.”
From Immune mediators in the brain and peripheral tissues in autism spectrum disorder (2015) · cites this paper as [63]
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Drozd, M. M. (2020) · theses.fr (ABES) · doi:10.70675/bd6e393fzd4c4z4de0z8980z0e6ffa109757
Unravelling autism: A holistic review of diagnosis, management, strength and future directions
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da Rocha, N. B. (2014) · Americanae (AECID Library)
Metadata
- Authors
- Piton, A., Michaud, J. L., Peng, H., Aradhya, S., Gauthier, J., Mottron, L., Champagne, N., Lafreniere, R. G., Hamdan, F. F., S2D team, Joober, R., Fombonne, E., Marineau, C., Cossette, P., Dube, M.-P., Haghighi, P., Drapeau, P., Barker, P. A., Carbonetto, S., & Rouleau, G. A.
- Affiliations
- Centre Hospitalier de l’Université de Montréal (CA)
- CHU Sainte-Justine Research Center (CA)
- Montreal General Hospital (CA)
- Hôpital Rivière-des-Prairies (CA)
- Université de Montréal (CA)
- Douglas Mental Health University Institute (CA)
- Montreal Children's Hospital (CA)
- Montreal Heart Institute (CA)
- McGill University (CA)
- Montreal Neurological Institute and Hospital (CA)
- Corresponding author
- Rouleau, G. A.
- ORCID
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 2008-09-04
- Volume
- 17
- Issue
- 24
- Pages
- 3965-3974
- ISSN
- 0964-6906 (ISSN-L)
- 1460-2083
- OpenAlex
- W2138625258
- Cited by
- 195
- References
- 32
- Citations by year
- 2026: 4 · 2025: 4 · 2024: 5 · 2023: 9 · 2022: 10 · 2021: 4 · 2020: 5 · 2019: 8 · 2018: 11 · 2017: 7 · 2016: 6 · 2015: 18 · 2014: 19 · 2013: 20 · 2012: 10
- FWCI
- 10.47
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Human Molecular Genetics (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Keywords
- IL1RAPL1, autism spectrum disorder, de novo frameshift mutation, intragenic deletion, X chromosome, synaptic genes, neurite outgrowth, hippocampal neurons, intellectual disability, missense mutations
- MeSH terms
- Animals, Autistic Disorder, Base Sequence, Calcium, Cell Differentiation, Cell Line, Child, Female, Genetic Carrier Screening, Hippocampus, Humans, Male, Intellectual Disability, Pedigree, Frameshift Mutation, Neurites, Sequence Deletion, Codon, Nonsense, Asperger Syndrome, Rats, Interleukin-1 Receptor Accessory Protein
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