Cited by 195Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder ResearchGenomic variations and chromosomal abnormalities

The DOI matches its Crossref record; 32 of the 32 references it cites were found in a registry or an index.

Mutations in the calcium-related gene IL1RAPL1 are associated with autism

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.·2008·Human Molecular Genetics

DOI 10.1093/hmg/ddn300

Open this paper in CoChat — free account

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.

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

Integrity signals

Registry

Crossref · 10.1093/hmg/ddn300

Cites

32 of 32 references verified0 citation errors · 0 not checkable

Statistics

Claims the paper makes

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

Self-check

Percentages, sums and reported differences re-computed from the paper’s own numbers.

The self-check needs the paper’s full text.

Autism as a strongly genetic disorder: evidence from a British twin study
Bailey, A., Le Couteur, A., Gottesman, I., Bolton, P., Simonoff, E., Yuzda, E., & Rutter, M. (1995) · Psychological Medicine · doi:10.1017/s0033291700028099 · Cited by 2,461
Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism
Study, P. A. R. I. S., Jamain, S., Quach, H., Betancur, C., Råstam, M., Colineaux, C., Gillberg, I. C., Soderstrom, H., Giros, B., Leboyer, M., et al. (2003) · Nature Genetics · doi:10.1038/ng1136 · Cited by 1,851
Structural Variation of Chromosomes in Autism Spectrum Disorder
Marshall, C. R., Noor, A., Vincent, J. B., Lionel, A. C., Feuk, L., Skaug, J., Shago, M., Moessner, R., Pinto, D., Ren, Y., et al. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2007.12.009 · Cited by 1,815 · cited 1×
“Moreover, a copy number variant encompassing the IL1RAPL1 gene was associated with ASD in one family (20).”
Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders
Durand, C. M., Betancur, C., Boeckers, T. M., Bockmann, J., Chaste, P., Fauchereau, F., Nygren, G., Rastam, M., Gillberg, I. C., Anckarsäter, H., et al. (2007) · Nature Genetics · doi:10.1038/ng1933 · Cited by 1,602
CaV1.2 Calcium Channel Dysfunction Causes a Multisystem Disorder Including Arrhythmia and Autism
Splawski, I., Timothy, K. W., Sharpe, L. M., Decher, N., Kumar, P., Bloise, R., Napolitano, C., Schwartz, P. J., Joseph, R. M., Condouris, K., et al. (2004) · Cell · doi:10.1016/j.cell.2004.09.011 · Cited by 1,586
Culturing nerve cells
Banker, G. A., & Goslin, K. (1998) · Cited by 1,290
X-Linked Mental Retardation and Autism Are Associated with a Mutation in the NLGN4 Gene, a Member of the Neuroligin Family
Laumonnier, F., Bonnet-Brilhault, F., Gomot, M., Blanc, R., David, A., Moizard, M.-P., Raynaud, M., Ronce, N., Lemonnier, E., Calvas, P., et al. (2004) · The American Journal of Human Genetics · doi:10.1086/382137 · Cited by 768
Postnatal neurodevelopmental disorders: meeting at the synapse?
Zoghbi, H. Y. (2003) · Science · doi:10.1126/science.1089071 · Cited by 691
Contribution of SHANK3 Mutations to Autism Spectrum Disorder
Moessner, R., Marshall, C. R., Sutcliffe, J. S., Skaug, J., Pinto, D., Vincent, J., Zwaigenbaum, L., Fernandez, B., Roberts, W., Szatmari, P., et al. (2007) · The American Journal of Human Genetics · doi:10.1086/522590 · Cited by 681
Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports
Menten, B., Maas, N., Thienpont, B., Buysse, K., Vandesompele, J., Melotte, C., de Ravel, T. J. L., Vooren, S. V., Balikova, I., Backx, L., et al. (2006) · Journal of Medical Genetics · doi:10.1136/jmg.2005.039453 · Cited by 420

Show all 32 references

Research works printed but not linked: 2

Laumonnier, 2006, American Journal of Psychiatry, 163, 1622, 10.1176/appi.ajp.163.9.1622 · DOI
2005, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics, 132, 74

Sorted by citations

Etiological heterogeneity in autism spectrum disorders: More than 100 genetic and genomic disorders and still counting
Betancur, C. (2011) · Brain Research · doi:10.1016/j.brainres.2010.11.078 · Cited by 954
Immune mediators in the brain and peripheral tissues in autism spectrum disorder
Estes, M. L., & McAllister, A. K. (2015) · Nature Reviews Neuroscience · doi:10.1038/nrn3978 · Cited by 514
The family of the interleukin‐1 receptors
Boraschi, D., Italiani, P., Weil, S., & Martin, M. U. (2017) · Immunological Reviews · doi:10.1111/imr.12606 · Cited by 399
Genetic and Epigenetic Networks in Intellectual Disabilities
van Bokhoven, H. (2011) · Annual Review of Genetics · doi:10.1146/annurev-genet-110410-132512 · Cited by 382
Key role for gene dosage and synaptic homeostasis in autism spectrum disorders
Toro, R., Konyukh, M., Delorme, R., Leblond, C., Chaste, P., Fauchereau, F., Coleman, M., Leboyer, M., Gillberg, C., & Bourgeron, T. (2010) · Trends in Genetics · doi:10.1016/j.tig.2010.05.007 · Cited by 331
Cytokine dysregulation in autism spectrum disorders (ASD): Possible role of the environment
Goines, P. E., & Ashwood, P. (2013) · Neurotoxicology and Teratology · doi:10.1016/j.ntt.2012.07.006 · Cited by 314
Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia
Piton, A., Gauthier, J., Hamdan, F. F., Lafrenière, R. G., Yang, Y., Henrion, É., Laurent, S. B., Noreau, A., Thibodeau, P., Karemera, L., et al. (2010) · Molecular Psychiatry · doi:10.1038/mp.2010.54 · Cited by 318
Self-citation
The genetic basis of non-syndromic intellectual disability: a review
Kaufman, L., Ayub, M., & Vincent, J. B. (2010) · Journal of Neurodevelopmental Disorders · doi:10.1007/s11689-010-9055-2 · Cited by 305
Protein tyrosine phosphatases PTPδ, PTPσ, and LAR: presynaptic hubs for synapse organization
Takahashi, H., & Craig, A. M. (2013) · Trends in Neurosciences · doi:10.1016/j.tins.2013.06.002 · Cited by 257
Innate immunity at the crossroads of healthy brain maturation and neurodevelopmental disorders
Zengeler, K. E., & Lukens, J. R. (2021) · Nature reviews. Immunology · doi:10.1038/s41577-020-00487-7 · Cited by 264
Intellectual disability and autism spectrum disorders: Causal genes and molecular mechanisms
Srivastava, A. K., & Schwartz, C. E. (2014) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2014.02.015 · Cited by 273
Neonatal Cytokine Profiles Associated With Autism Spectrum Disorder
Krakowiak, P., Goines, P. E., Tancredi, D. J., Ashwood, P., Hansen, R. L., Hertz-Picciotto, I., & Van de Water, J. (2017) · Biological Psychiatry · doi:10.1016/j.biopsych.2015.08.007 · Cited by 249
SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function
Fassio, A., Patry, L., Congia, S., Onofri, F., Piton, A., Gauthier, J., Pozzi, D., Messa, M., Defranchi, E., Fadda, M., et al. (2011) · Human Molecular Genetics · doi:10.1093/hmg/ddr122 · Cited by 246
Self-citation
The interleukin-1 receptor family
Boraschi, D., & Tagliabue, A. (2013) · Seminars in Immunology · doi:10.1016/j.smim.2013.10.023 · Cited by 255
Direct Measure of the De Novo Mutation Rate in Autism and Schizophrenia Cohorts
Awadalla, P., Gauthier, J., Myers, R. A., Casals, F., Hamdan, F. F., Griffing, A. R., Côté, M., Henrion, É., Spiegelman, D., Tarabeux, J., et al. (2010) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2010.07.019 · Cited by 243
Self-citation
Rare mutations in N-methyl-D-aspartate glutamate receptors in autism spectrum disorders and schizophrenia
Tarabeux, J., Kebir, O., Gauthier, J., Hamdan, F. F., Xiong, L., Piton, A., Spiegelman, D., Henrion, É., Millet, B., S2D team, et al. (2011) · Translational Psychiatry · doi:10.1038/tp.2011.52 · Cited by 231
Self-citation
Inflammatory Cytokines: Potential Biomarkers of Immunologic Dysfunction in Autism Spectrum Disorders
Xu, N., Li, X., & Zhong, Y. (2015) · Mediators of Inflammation · doi:10.1155/2015/531518 · Cited by 228
Autism spectrum disorder causes, mechanisms, and treatments: focus on neuronal synapses
Won, H., Mah, W., & Kim, E. (2013) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2013.00019 · Cited by 217
Copy Number and SNP Arrays in Clinical Diagnostics
Schaaf, C. P., Wiszniewska, J., & Beaudet, A. L. (2011) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-092010-110715 · Cited by 200
Disruption at the PTCHD1 Locus on Xp22.11 in Autism Spectrum Disorder and Intellectual Disability
Noor, A., Whibley, A., Marshall, C. R., Gianakopoulos, P. J., Piton, A., Carson, A. R., Orlic-Milacic, M., Lionel, A. C., Sato, D., Pinto, D., et al. (2010) · Science Translational Medicine · doi:10.1126/scitranslmed.3001267 · Cited by 193
Self-citation
Etiologies underlying sex differences in autism spectrum disorders
Schaafsma, S. M., & Pfaff, D. W. (2014) · Frontiers in Neuroendocrinology · doi:10.1016/j.yfrne.2014.03.006 · Cited by 178
Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism spectrum disorders
Mikhail, F. M., Lose, E. J., Robin, N. H., Descartes, M. D., Rutledge, K. D., Rutledge, S. L., Korf, B. R., & Carroll, A. J. (2011) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.34177 · Cited by 168
IL-1 Receptor Accessory Protein-Like 1 Associated with Mental Retardation and Autism Mediates Synapse Formation by Trans-Synaptic Interaction with Protein Tyrosine Phosphatase δ
Yoshida, T., Yasumura, M., Uemura, T., Lee, S.-J., Ra, M., Taguchi, R., Iwakura, Y., & Mishina, M. (2011) · The Journal of Neuroscience · doi:10.1523/jneurosci.2136-11.2011 · Cited by 166
Neuron-Specific Effects of Interleukin-1β Are Mediated by a Novel Isoform of the IL-1 Receptor Accessory Protein
Huang, Y., Smith, D. E., Ibáñez-Sandoval, O., Sims, J. E., & Friedman, W. (2011) · Journal of Neuroscience · doi:10.1523/jneurosci.4067-11.2011 · Cited by 164
Interaction between autism-linked MDGAs and neuroligins suppresses inhibitory synapse development
Pettem, K. L., Yokomaku, D., Takahashi, H., Ge, Y., & Craig, A. M. (2013) · The Journal of Cell Biology · doi:10.1083/jcb.201206028 · Cited by 150
A Central Nervous System-Restricted Isoform of the Interleukin-1 Receptor Accessory Protein Modulates Neuronal Responses to Interleukin-1
Smith, D. E., Lipsky, B. P., Russell, C. B., Ketchem, R. R., Kirchner, J., Hensley, K. M., Huang, Y., Friedman, W., Boissonneault, V., Plante, M.-M., et al. (2009) · Immunity · doi:10.1016/j.immuni.2009.03.020 · Cited by 135
Interleukin-1 Receptor Accessory Protein Organizes Neuronal Synaptogenesis as a Cell Adhesion Molecule
Yoshida, T., Shiroshima, T., Lee, S.-J., Yasumura, M., Uemura, T., Chen, X., Iwakura, Y., & Mishina, M. (2012) · The Journal of Neuroscience · doi:10.1523/jneurosci.4637-11.2012 · Cited by 134
Brain-Reactive Antibodies and Disease
Diamond, B., Honig, G., Mader, S., Brimberg, L., & Volpe, B. T. (2013) · Annual Review of Immunology · doi:10.1146/annurev-immunol-020711-075041 · Cited by 138
Networking in Autism: Leveraging Genetic, Biomarker and Model System Findings in the Search for New Treatments
Veenstra-VanderWeele, J., & Blakely, R. D. (2012) · Neuropsychopharmacology · doi:10.1038/npp.2011.185 · Cited by 128
Developmental vulnerability of synapses and circuits associated with neuropsychiatric disorders
Penzes, P., Buonanno, A., Passafaro, M., Sala, C., & Sweet, R. A. (2013) · Journal of Neurochemistry · doi:10.1111/jnc.12261 · Cited by 125
A Postsynaptic Signaling Pathway that May Account for the Cognitive Defect Due to IL1RAPL1 Mutation
Pavlowsky, A., Gianfelice, A., Pallotto, M., Zanchi, A., Vara, H., Khelfaoui, M., Valnegri, P., Rezai, X., Bassani, S., Brambilla, D., et al. (2010) · Current Biology · doi:10.1016/j.cub.2009.12.030 · Cited by 124
Autoimmune antigenic targets at the node of Ranvier in demyelinating disorders
Stathopoulos, P., Alexopoulos, H., & Dalakas, M. C. (2015) · Nature Reviews Neurology · doi:10.1038/nrneurol.2014.260 · Cited by 124
Zebrafish models for the functional genomics of neurogenetic disorders
Kabashi, E., Brustein, E., Champagne, N., & Drapeau, P. (2010) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2010.09.011 · Cited by 126
Self-citation
The X-linked intellectual disability protein IL1RAPL1 regulates excitatory synapse formation by binding PTPδ and RhoGAP2
Valnegri, P., Montrasio, C., Brambilla, D., Ko, J., Passafaro, M., & Sala, C. (2011) · Human Molecular Genetics · doi:10.1093/hmg/ddr418 · Cited by 116
Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families
Egger, G., Roetzer, K. M., Noor, A., Lionel, A. C., Mahmood, H., Schwarzbraun, T., Boright, O., Mikhailov, A., Marshall, C. R., Windpassinger, C., et al. (2014) · Neurogenetics · doi:10.1007/s10048-014-0394-0 · Cited by 115
Whole Exome Sequencing in Females with Autism Implicates Novel and Candidate Genes
Butler, M. G., Rafi, S. K., Hossain, W. A., Stephan, D. A., & Manzardo, A. M. (2015) · International Journal of Molecular Sciences · doi:10.3390/ijms16011312 · Cited by 93
Understanding the physiological roles of the neuronal calcium sensor proteins
Burgoyne, R. D., & Haynes, L. P. (2012) · Molecular Brain · doi:10.1186/1756-6606-5-2 · Cited by 90
Calcium Sensors in Neuronal Function and DysfunctionPreprint
Burgoyne, R. D., Helassa, N., McCue, H. V., & Haynes, L. P. (2019) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a035154 · Cited by 89
SYN2 is an autism predisposing gene: loss-of-function mutations alter synaptic vesicle cycling and axon outgrowth
Corradi, A. M., Fadda, M., Piton, A., Patry, L., Marte, A., Rossi, P. I. A., Cadieux‐Dion, M., Gauthier, J., Lapointe, L., Mottron, L., et al. (2013) · Human Molecular Genetics · doi:10.1093/hmg/ddt401 · Cited by 88
Self-citation
Emerging major synaptic signaling pathways involved in intellectual disability
Pavlowsky, A., Chelly, J., & Billuart, P. (2011) · Molecular Psychiatry · doi:10.1038/mp.2011.139 · Cited by 87
Involvement of Synaptic Genes in the Pathogenesis of Autism Spectrum Disorders: The Case of Synapsins
Giovedì, S., Corradi, A. M., Fassio, A., & Benfenati, F. (2014) · Frontiers in Pediatrics · doi:10.3389/fped.2014.00094 · Cited by 85
An emerging phenotype of Xq22 microdeletions in females with severe intellectual disability, hypotonia and behavioral abnormalities
Yamamoto, T., Wilsdon, A., Joss, S. K., Isidor, B., Erlandsson, A., Suri, M., Sangu, N., Shimada, S., Shimojima, K. Y., Caignec, C. L., et al. (2014) · Journal of Human Genetics · doi:10.1038/jhg.2014.21 · Cited by 74
Decoys and Regulatory “Receptors” of the IL-1/Toll-Like Receptor Superfamily
Garlanda, C., Riva, F., Bonavita, E., Gentile, S., & Mantovani, A. (2013) · Frontiers in Immunology · doi:10.3389/fimmu.2013.00180 · Cited by 72
Structural and Functional Deficits in a Neuronal Calcium Sensor-1 Mutant Identified in a Case of Autistic Spectrum Disorder
Handley, M. T., Lian, L., Haynes, L. P., & Burgoyne, R. D. (2010) · PLoS ONE · doi:10.1371/journal.pone.0010534 · Cited by 70
The Mitochondrial Aspartate/Glutamate Carrier AGC1 and Calcium Homeostasis: Physiological Links and Abnormalities in Autism
Napolioni, V., Persico, A. M., Porcelli, V., & Palmieri, L. (2011) · Molecular Neurobiology · doi:10.1007/s12035-011-8192-2 · Cited by 70
IL1RAPL1 knockout mice show spine density decrease, learning deficiency, hyperactivity and reduced anxiety-like behaviours
Yasumura, M., Yoshida, T., Yamazaki, M., Abe, M., Natsume, R., Kanno, K., Uemura, T., Takao, K., Sakimura, K., Kikusui, T., et al. (2014) · Scientific Reports · doi:10.1038/srep06613 · Cited by 69
X‐linked mental retardation: focus on synaptic function and plasticity
Humeau, Y., Gambino, F., Chelly, J., & Vitale, N. (2009) · Journal of Neurochemistry · doi:10.1111/j.1471-4159.2009.05881.x · Cited by 76
Modeling Fragile X Syndrome in Drosophila
Drozd, M. M., Bardoni, B., & Capovilla, M. (2018) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2018.00124 · Cited by 70
Whole-genome sequencing reveals principles of brain retrotransposition in neurodevelopmental disorders
Jacob‐Hirsch, J., Eyal, E., Knisbacher, B. A., Roth, J. F., Cesarkas, K., Dor, C., Barhom, S. F., Kunik, V., Simon, A. J., Gal, M., et al. (2018) · Cell Research · doi:10.1038/cr.2018.8 · Cited by 72
The enigmatic role of IL-38 in inflammatory diseases
Garraud, T., Harel, M., Boutet, M., Goff, B. L., & Blanchard, F. (2018) · Cytokine & Growth Factor Reviews · doi:10.1016/j.cytogfr.2018.01.001 · Cited by 66
Diagnostic Yield of Chromosomal Microarray Analysis in an Autism Primary Care Practice: Which Guidelines to Implement?
McGrew, S. G., Peters, B., Crittendon, J. A., & Veenstra-VanderWeele, J. M. (2011) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-011-1398-3 · Cited by 68
IL1RAPL1 Associated with Mental Retardation and Autism Regulates the Formation and Stabilization of Glutamatergic Synapses of Cortical Neurons through RhoA Signaling Pathway
Takashi, H., Yoshida, T., Ra, M., Taguchi, R., & Mishina, M. (2013) · PLoS ONE · doi:10.1371/journal.pone.0066254 · Cited by 64
Targeted massively parallel sequencing of autism spectrum disorder-associated genes in a case control cohort reveals rare loss-of-function risk variants
Griswold, A. J., Dueker, N., Booven, D. V., Rantus, J. A., Jaworski, J. M., Slifer, S. H., Schmidt, M. A., Hulme, W. F., Konidari, I., Whitehead, P. L., et al. (2015) · Molecular Autism · doi:10.1186/s13229-015-0034-z · Cited by 66
Epileptogenic Q555X SYN1 mutant triggers imbalances in release dynamics and short-term plasticity
Lignani, G., Raimondi, A., Ferrea, E., Rocchi, A., Paonessa, F., Cesca, F., Orlando, M., Tkatch, T., Valtorta, F., Cossette, P., et al. (2013) · Human Molecular Genetics · doi:10.1093/hmg/ddt071 · Cited by 63
Self-citation
NCS-1 is a regulator of calcium signaling in health and disease
Boeckel, G. R., & Ehrlich, B. E. (2018) · Biochimica et Biophysica Acta (BBA) - Molecular Cell Research · doi:10.1016/j.bbamcr.2018.05.005 · Cited by 63
Xp21 deletion in female patients with intellectual disability: Two new cases and a review of the literature
Heide, S., Afenjar, A., Edery, P., Sanlaville, D., Keren, B., Rouen, A., Lavillaureix, A., Hyon, C., Doummar, D., Siffroi, J., et al. (2015) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2015.04.003 · Cited by 61
Analysis of the effects of rare variants on splicing identifies alterations in GABAA receptor genes in autism spectrum disorder individuals
Piton, A., Jouan, L., Rochefort, D. L., Dobrzeniecka, S., Lachapelle, K., Dion, P. A., Gauthier, J., & Rouleau, G. A. (2012) · European Journal of Human Genetics · doi:10.1038/ejhg.2012.243 · Cited by 65
Self-citation
Disruption of the epigenetic code: An emerging mechanism in mental retardation
van Bokhoven, H., & Kramer, J. M. (2010) · Neurobiology of Disease · doi:10.1016/j.nbd.2010.03.010 · Cited by 59
Genetic Diagnostic Evaluation of Trio-Based Whole Exome Sequencing Among Children With Diagnosed or Suspected Autism Spectrum Disorder
Du, X., Gao, X., Liu, X., Shen, L., Wang, K., Fan, Y., Sun, Y., Luo, X., Liu, H., Wang, L., et al. (2018) · Frontiers in Genetics · doi:10.3389/fgene.2018.00594 · Cited by 57
The X-Linked Intellectual Disability Protein IL1RAPL1 Regulates Dendrite Complexity
Montani, C., Ramos-Brossier, M., Ponzoni, L., Gritti, L., Cwetsch, A. W., Braida, D., Saillour, Y., Terragni, B., Mantegazza, M., Sala, M., et al. (2017) · Journal of Neuroscience · doi:10.1523/jneurosci.3775-16.2017 · Cited by 48
Proper synaptic adhesion signaling in the control of neural circuit architecture and brain function
Kim, H. Y., Um, J. W., & Ko, J. (2021) · Progress in Neurobiology · doi:10.1016/j.pneurobio.2020.101983 · Cited by 51
An X chromosome-wide association study in autism families identifies TBL1X as a novel autism spectrum disorder candidate gene in males
Chung, R.-H., Ma, D., Wang, K., Hedges, D. J., Jaworski, J. M., Gilbert, J. R., Cuccaro, M. L., Wright, H. H., Abramson, R. K., Konidari, I., et al. (2011) · Molecular Autism · doi:10.1186/2040-2392-2-18 · Cited by 49
ARID1B controls transcriptional programs of axon projection in an organoid model of the human corpus callosum
Martins‐Costa, C., Wiegers, A., Pham, V. A., Sidhaye, J., Doleschall, B., Novatchkova, M., Lendl, T., Piber, M., Peer, A. M., Möseneder, P., et al. (2024) · Cell stem cell · doi:10.1016/j.stem.2024.04.014 · Cited by 55
Direct single-molecule observation of calcium-dependent misfolding in human neuronal calcium sensor-1
Heidarsson, P. O., Naqvi, M. M., Otazo, M. R., Mossa, A., Kragelund, B. B., & Cecconi, C. (2014) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1401065111 · Cited by 50
De Novo Truncating Mutation in Kinesin 17 Associated with Schizophrenia
Tarabeux, J., Champagne, N., Brustein, E., Hamdan, F. F., Gauthier, J., Lapointe, M., Maios, C., Piton, A., Spiegelman, D., Henrion, É., et al. (2010) · Biological Psychiatry · doi:10.1016/j.biopsych.2010.04.018 · Cited by 52
Self-citation
Molecular and synaptic defects in intellectual disability syndromes
Verpelli, C., & Sala, C. (2011) · Current Opinion in Neurobiology · doi:10.1016/j.conb.2011.09.007 · Cited by 55
Identification of de novo germline mutations and causal genes for sporadic diseases using trio‐based whole‐exome/genome sequencing
Jin, Z., Li, Z., Liu, Z., Jiang, Y. W., Cai, X., & Wu, J. (2017) · Biological reviews/Biological reviews of the Cambridge Philosophical Society · doi:10.1111/brv.12383 · Cited by 51
PRICKLE1 Interaction with SYNAPSIN I Reveals a Role in Autism Spectrum Disorders
Paemka, L., Mahajan, V. B., Skeie, J. M., Sowers, L. P., Ehaideb, S. N., Gonzalez‐Alegre, P., Sasaoka, T., Tao, H., Miyagi, A., Ueno, N., et al. (2013) · PLoS ONE · doi:10.1371/journal.pone.0080737 · Cited by 47
Sense and specificity in neuronal calcium signalling
Burgoyne, R. D., & Haynes, L. P. (2014) · Biochimica et Biophysica Acta (BBA) - Molecular Cell Research · doi:10.1016/j.bbamcr.2014.10.029 · Cited by 46
Multiple Roles for Frequenin/NCS-1 in Synaptic Function and Development
Dason, J. S., Romero‐Pozuelo, J., Atwood, H. L., & Ferrús, A. (2012) · Molecular Neurobiology · doi:10.1007/s12035-012-8250-4 · Cited by 48
Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesis
Ramos-Brossier, M., Montani, C., Lebrun, N., Gritti, L., Martin, C., Seminatore-Nole, C., Toussaint, A., Moreno, S., Poirier, K., Dorseuil, O., et al. (2014) · Human Molecular Genetics · doi:10.1093/hmg/ddu523 · Cited by 43
Neuronal Calcium Sensor-1 Binds the D2 Dopamine Receptor and G-protein-coupled Receptor Kinase 1 (GRK1) Peptides Using Different Modes of Interactions
Pandalaneni, S. R., Karuppiah, V., Saleem, M. S., Haynes, L. P., Burgoyne, R. D., Mayans, O. M., Derrick, J. P., & Lian, L. (2015) · Journal of Biological Chemistry · doi:10.1074/jbc.m114.627059 · Cited by 41
Deletion of the immunoglobulin domain of IL1RAPL1 results in nonsyndromic X‐linked intellectual disability associated with behavioral problems and mild dysmorphism
Franek, K. J., Butler, J., Johnson, J. P., Simensen, R. J., Friez, M. J., Bartel, F., Moss, T., DuPont, B. R., Berry, K. A., Bauman, M. L., et al. (2011) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.33833 · Cited by 40
Neuronal JNK pathway activation by IL-1 is mediated through IL1RAPL1, a protein required for development of cognitive functions
Pavlowsky, A., Zanchi, A., Pallotto, M., Giustetto, M., Chelly, J., Sala, C., & Billuart, P. (2010) · Communicative & Integrative Biology · doi:10.4161/cib.3.3.11414 · Cited by 40
The function of apolipoproteins L (APOLs): relevance for kidney disease, neurotransmission disorders, cancer and viral infection
Pays, E. (2020) · FEBS Journal · doi:10.1111/febs.15444 · Cited by 39
X‐linked intellectual disability related genes disrupted by balanced X‐autosome translocations
Moysés‐Oliveira, M., Guilherme, R. S., Meloni, V. A., Di‐Battista, A., de Mello, C. B., Bragagnolo, S., Moretti‐Ferreira, D., Kosyakova, N., Liehr, T., Carvalheira, G. M. G., et al. (2015) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.32355 · Cited by 39
SLITRK2 variants associated with neurodevelopmental disorders impair excitatory synaptic function and cognition in mice
Chehadeh, S. E., Han, K. A., Kim, D., Jang, G., Bakhtiari, S., Lim, D., Kim, H. Y., Kim, J., Kim, H., Wynn, J., et al. (2022) · Nature Communications · doi:10.1038/s41467-022-31566-z · Cited by 37
Self-citation
Identification of Genes Promoting Skin Youthfulness by Genome-Wide Association Study
Chang, A. L. S., Atzmon, G., Bergman, A., Brugmann, S. A., Atwood, S. X., Chang, H. Y., & Barzilai, N. (2013) · Journal of Investigative Dermatology · doi:10.1038/jid.2013.381 · Cited by 39
Calcium, Dopamine and Neuronal Calcium Sensor 1: Their Contribution to Parkinson’s Disease
Catoni, C., Calí, T., & Brini, M. (2019) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2019.00055 · Cited by 40
The Synaptic and Neuronal Functions of the X‐Linked Intellectual Disability Protein Interleukin‐1 Receptor Accessory Protein Like 1 (IL1RAPL1)
Montani, C., Gritti, L., Beretta, S., Verpelli, C., & Sala, C. (2018) · Developmental Neurobiology · doi:10.1002/dneu.22657 · Cited by 40
IL1RAPL1 controls inhibitory networks during cerebellar development in mice
Gambino, F., Kneib, M., Pavlowsky, A., Skala, H., Heitz, S., Vitale, N., Poulain, B., Khelfaoui, M., Chelly, J., Billuart, P., et al. (2009) · European Journal of Neuroscience · doi:10.1111/j.1460-9568.2009.06975.x · Cited by 37
NCS-1 deficiency causes anxiety and depressive-like behavior with impaired non-aversive memory in mice
de Rezende, V. B., Rosa, D. V., Comim, C. M., Magno, L. A. V., Rodrigues, A. L. S., Vidigal, P. V. T., Jeromin, A., Quevedo, J., & Romano‐Silva, M. A. (2014) · Physiology & Behavior · doi:10.1016/j.physbeh.2014.03.005 · Cited by 34
IL1RAPL1 gene deletion as a cause of X-linked intellectual disability and dysmorphic features
Youngs, E. L., Henkhaus, R. S., Hellings, J. A., & Butler, M. G. (2011) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2011.08.004 · Cited by 35
The C-Terminal Tail of Human Neuronal Calcium Sensor 1 Regulates the Conformational Stability of the Ca2+-Activated State
Heidarsson, P. O., Bjerrum-Bohr, I. J., Jensen, G. A., Pongs, O., Finn, B. E., Poulsen, F. M., & Kragelund, B. B. (2011) · Journal of Molecular Biology · doi:10.1016/j.jmb.2011.12.049 · Cited by 35
Intragenic deletions of IL1RAPL1: Report of two cases and review of the literature
Behnecke, A., Hinderhofer, K., Bartsch, O., Nümann, A., Ipach, M., Damatova, N., Haaf, T., Dufke, A., Rieß, O., & Moog, U. (2010) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.33656 · Cited by 34
Copy Number Variants for Schizophrenia and Related Psychotic Disorders in Oceanic Palau: Risk and Transmission in Extended Pedigrees
Melhem, N., Middleton, F. A., McFadden, K. A., Klei, L., Faraone, S. V., Vinogradov, S., Tiobech, J., Yano, V. M., Kuartei, S. J., Roeder, K., et al. (2011) · Biological Psychiatry · doi:10.1016/j.biopsych.2011.08.009 · Cited by 36
The guanine-exchange factor Ric8a binds the calcium sensor NCS-1 to regulate synapse number and probability of release
Romero‐Pozuelo, J., Dason, J. S., Mansilla, A., Baños-Mateos, S., Sardina, J. L., Chaves-Sanjuán, A., Jurado-Gómez, J., Santana, E., Atwood, H. L., Hernández‐Hernández, Á., et al. (2014) · Journal of Cell Science · doi:10.1242/jcs.152603 · Cited by 33
Cause or consequence? The role of IL-1 family cytokines and receptors in neuroinflammatory and neurodegenerative diseases
Boraschi, D., Italiani, P., Migliorini, P., & Bossù, P. (2023) · Frontiers in Immunology · doi:10.3389/fimmu.2023.1128190 · Cited by 38
Loss of interleukin 1 signaling causes impairment of microglia- mediated synapse elimination and autistic-like behaviour in mice
Borreca, A., Mantovani, C., Desiato, G., Corradini, I., Filipello, F., Elia, C., D’Autilia, F., Santamaria, G., Garlanda, C., Morini, R., et al. (2024) · Brain Behavior and Immunity · doi:10.1016/j.bbi.2024.01.221 · Cited by 32
Rare variation in non-coding regions with evolutionary signatures contributes to autism spectrum disorder risk
Shin, T., Song, J. H. T., Kosicki, M., Kenny, C. J., Beck, S. G., Kelley, L., Antony, I., Qian, X., Bonacina, J., Papandile, F., et al. (2024) · Cell Genomics · doi:10.1016/j.xgen.2024.100609 · Cited by 33
Target-Specific Vulnerability of Excitatory Synapses Leads to Deficits in Associative Memory in a Model of Intellectual Disorder
Houbaert, X., Zhang, C.-L., Gambino, F., Lepleux, M., Deshors, M., Normand, E., Levet, F., Ramos, M., Billuart, P., Chelly, J., et al. (2013) · The Journal of Neuroscience · doi:10.1523/jneurosci.1457-13.2013 · Cited by 31
Single-Molecule Folding Mechanism of an EF-Hand Neuronal Calcium Sensor
Heidarsson, P. O., Otazo, M. R., Bellucci, L., Mossa, A., Imparato, A., Paci, E., Corni, S., Felice, R. D., Kragelund, B. B., & Cecconi, C. (2013) · Structure · doi:10.1016/j.str.2013.07.022 · Cited by 31
A novel Microproteomic Approach Using Laser Capture Microdissection to Study Cellular Protrusions
Gousset, K., Gordon, A., Kannan, S. K., & Tovar, J. (2019) · International Journal of Molecular Sciences · doi:10.3390/ijms20051172 · Cited by 28
X-Chromosomal Maternal and Fetal SNPs and the Risk of Spontaneous Preterm Delivery in a Danish/Norwegian Genome-Wide Association Study
Myking, S., Boyd, H. A., Myhre, R., Feenstra, B., Jugessur, A., Pay, A. S. D., Østensen, I. H. G., Morken, N., Busch, T. D., Ryckman, K. K., et al. (2013) · PLoS ONE · doi:10.1371/journal.pone.0061781 · Cited by 31
Immunoglobulin-Like Receptors and Their Impact on Wiring of Brain Synapses
Cameron, S., & McAllister, A. K. (2018) · Annual Review of Genetics · doi:10.1146/annurev-genet-120417-031513 · Cited by 28
The hippocampo-amygdala control of contextual fear expression is affected in a model of intellectual disability
Zhang, C.-L., Houbaert, X., Lepleux, M., Deshors, M., Normand, E., Gambino, F., Herzog, É., & Humeau, Y. (2014) · Brain Structure and Function · doi:10.1007/s00429-014-0882-x · Cited by 28
Genetics implicate common mechanisms in autism and schizophrenia: synaptic activity and immunity
Liu, X., Li, Z., Fan, C., Zhang, D., & Chen, J. (2017) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2016-104487 · Cited by 27
Neuronal calcium sensor-1 deletion in the mouse decreases motivation and dopamine release in the nucleus accumbens
Ng, E., Varaschin, R. K., Su, P., Browne, C. J., Hermainski, J., Foll, B. L., Pongs, O., Liu, F., Trudeau, L., Roder, J., et al. (2015) · Behavioural Brain Research · doi:10.1016/j.bbr.2015.12.037 · Cited by 27
Pan-neurexin perturbation results in compromised synapse stability and a reduction in readily releasable synaptic vesicle pool size
Quinn, D. P., Kolar, A., Wigerius, M., Gomm-Kolisko, R. N., Atwi, H., Fawcett, J. P., & Krueger, S. (2017) · Scientific Reports · doi:10.1038/srep42920 · Cited by 25
Etiological Heterogeneity in Autism Spectrum Disorders
Betancur, C., & Coleman, M. (2012) · Elsevier eBooks · doi:10.1016/b978-0-12-391924-3.00008-9 · Cited by 28

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: Piton, A.
Michaud, J. L.
Aradhya, S.
Mottron, L.
Hamdan, F. F.
Joober, R.
Fombonne, E.
Drapeau, P.
Barker, P. A.
Rouleau, G. A.
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
DOI: 10.1093/hmg/ddn300
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

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review

Mutations in the calcium-related gene IL1RAPL1 are associated with autism

Abstract

Overview

Integrity signals

Verification

Claims the paper makes

Claims other papers make about this one

Self-check

Citations

Cites

Cited by

Related

Metadata

Record

About these checks