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

Human Molecular Genetics

Volumn 17, Issue 24, 2008, Pages 3965-3974

  Piton, Amélie ^a   Michaud, Jacques L ^b   Peng, Huashan ^c   Aradhya, Swaroop ^d   Gauthier, Julie ^a   Mottron, Laurent ^e   Champagne, Nathalie ^e   Lafrenière, Ronald G ^a   Hamdan, Fadi F ^b   Joober, Ridha ^f   Fombonne, Eric ^g   Marineau, Claude ^a   Cossette, Patrick ^a   Dubé, Marie Pierre ^h   Haghighi, Pejmun ⁱ   Drapeau, Pierre ^e   Barker, Philip A ^j   Carbonetto, Salvatore ^c   Rouleau, Guy A ^a  

^a UNIVERSITY OF MONTREAL   (Canada)

^b CENTRE HOSPITALIER DE L UNIVERSITÉ DE MONTRÉAL   (Canada)

^c MONTREAL GENERAL HOSPITAL   (Canada)

^d GENEDX   (United States)

^e UNIVERSITÉ DE MONTRÉAL   (Canada)

^f DOUGLAS MENTAL HEALTH UNIVERSITY INSTITUTE   (Canada)

^g MONTREAL CHILDREN S HOSPITAL   (Canada)

^h MONTREAL HEART INSTITUTE   (Canada)

ⁱ MCGILL UNIVERSITY   (Canada)

^j MCGILL UNIVERSITY   (Canada)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; CALCIUM; GLUTAMIC ACID; INTERLEUKIN 1 RECEPTOR ACCESSORY PROTEIN LIKE 1; MEMBRANE PROTEIN; UNCLASSIFIED DRUG;

ANIMAL CELL; ARTICLE; AUTISM; COHORT ANALYSIS; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; DISEASE SEVERITY; EMBRYO; EXON; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE IDENTIFICATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC SCREENING; GENETIC VARIABILITY; HIPPOCAMPUS; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MALE; MENTAL DEFICIENCY; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NERVE CELL; NERVE FIBER GROWTH; NEUROLOGIC DISEASE; NONHUMAN; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN DETERMINATION; PROTEIN FUNCTION; PROTEIN INTERACTION; RAT; STOP CODON;

ANIMALS; ASPERGER SYNDROME; AUTISTIC DISORDER; BASE SEQUENCE; CALCIUM; CELL DIFFERENTIATION; CELL LINE; CHILD; CODON, NONSENSE; FEMALE; FRAMESHIFT MUTATION; HETEROZYGOTE DETECTION; HIPPOCAMPUS; HUMANS; INTERLEUKIN-1 RECEPTOR ACCESSORY PROTEIN; MALE; MENTAL RETARDATION; NEURITES; PEDIGREE; RATS; SEQUENCE DELETION;

EID: 57049170205     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddn300     Document Type: Article

References (32)

1. Lauritsen, M. and Ewald, H. (2001) The genetics of autism. Acta Psychiatr. Scand., 103, 411-427.
2. Bailey, A., Le Couteur, A., Gottesman, I., Bolton, P., Simonoff, E., Yuzda, E. and Rutter, M. (1995) Autism as a strongly genetic disorder: evidence from a British twin study. Psychol. Med., 25, 63-77.
3. Yang, M.S. and Gill, M. (2007) A review of gene linkage, association and expression studies in autism and an assessment of convergent evidence. Int. J. Dev. Neurosci., 25, 69-85.
4. Jamain, S., Quach, H., Betancur, C., Rastam, M., Colineaux, C., Gillberg, I.C., Soderstrom, H., Giros, B., Leboyer, M., Gillberg, C. et al. (2003) Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism. Nat. Genet., 34, 27-29.
5. Durand, C.M., Betancur, C., Boeckers, T.M., Bockmann, J., Chaste, P., Fauchereau, F., Nygren, G., Rastam, M., Gillberg, I.C., Anckarsater, H. et al. (2007) Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders. Nat. Genet., 39, 25-27.
6. 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) X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family. Am. J. Hum. Genet., 74, 552-557.
7. Lawson-Yuen, A., Saldivar, J.S., Sommer, S. and Picker, J. (2008) Familial deletion within NLGN4 associated with autism and Tourette syndrome. Eur. J. Hum. Genet., 16, 614-618.
8. 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) Contribution of SHANK3 mutations to autism spectrum disorder. Am. J. Hum. Genet., 81, 1289-1297.
9. Gauthier, J., Spiegelman, D., Piton, A., Lafreniere, R.G., Laurent, S., St-Onge, J., Lapointe, L., Hamdan, F.F., Cossette, P., Mottron, L. et al. (2008) Novel de novo SHANK3 mutation in autistic patients. Am. J. Med. Genet. B Neuropsychiatr. Genet. [Epub ahead of print July 9, 2008].
10. Zoghbi, H.Y. (2003) Postnatal neurodevelopmental disorders: Meeting at the synapse? Science, 302, 826-830.
11. Garber, K. (2007) Neuroscience. Autism's cause may reside in abnormalities at the synapse. Science, 317, 190-191.
12. Born, T.L., Smith, D.E., Garka, K.E., Renshaw, B.R., Bertles, J.S. and Sims, J.E. (2000) Identification and characterization of two members of a novel class of the interleukin-1 receptor (IL-1R) family. Delineation of a new class of IL-1R-related proteins based on signaling. J. Biol. Chem., 275, 29946-29954.
13. Bahi, N., Friocourt, G., Carrie, A., Graham, M.E., Weiss, J.L., Chafey, P., Fauchereau, F., Burgoyne, R.D. and Chelly, J. (2003) IL1 receptor accessory protein like, a protein involved in X-linked mental retardation, interacts with Neuronal Calcium Sensor-1 and regulates exocytosis. Hum. Mol. Genet., 12, 1415-1425.
14. Gambino, F., Pavlowsky, A., Begle, A., Dupont, J.L., Bahi, N., Courjaret, R., Gardette, R., Hadjkacem, H., Skala, H., Poulain, B. et al. (2007) IL1-receptor accessory protein-like 1 (IL1RAPL1), a protein involved in cognitive functions, regulates N-type Ca2+-channel and neurite elongation. Proc. Natl. Acad. Sci. USA, 104, 9063-9068.
15. Carrie, A., Jun, L., Bienvenu, T., Vinet, M.C., McDonell, N., Couvert, P., Zemni, R., Cardona, A., Van Buggenhout, G., Frints, S. et al. (1999) A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation. Nat. Genet. 23, 25-31.
16. Tabolacci, E., Pomponi, M.G., Pietrobono, R., Terracciano, A., Chiurazzi, P. and Neri, G. (2006) A truncating mutation in the IL1RAPL1 gene is responsible for X-linked mental retardation in the MRX21 family. Am. J. Med. Genet. A, 140, 482-487.
17. Froyen, G., Van Esch, H., Bauters, M., Hollanders, K., Frints, S.G., Vermeesch, J.R., Devriendt, K., Fryns, J.P. and Marynen, P. (2007) Detection of genomic copy number changes in patients with idiopathic mental retardation by high-resolution X-array-CGH: Important role for increased gene dosage of XLMR genes. Hum. Mutat., 28, 1034-1042.
18. Menten, B., Maas, N., Thienpont, B., Buysse, K., Vandesompele, J., Melotte, C., de Ravel, T., Van Vooren, S., Balikova, I., Backx, L. et al. (2006) 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. J. Med. Genet., 43, 625-633.
19. Bhat, S.S., Ladd, S., Grass, F., Spence, J.E., Brasington, C.K., Simensen, R.J., Schwartz, C.E., Dupont, B.R., Stevenson, R.E. and Srivastava, A.K. (2008) Disruption of the IL1RAPL1 gene associated with a pericentromeric inversion of the X chromosome in a patient with mental retardation and autism. Clin. Genet., 73, 94-96.
20. 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) Structural variation of chromosomes in autism spectrum disorder. Am. J. Hum. Genet., 82, 477-488.
21. Cody, H., Pelphrey, K. and Piven, J. (2002) Structural and functional magnetic resonance imaging of autism. Int. J. Dev. Neurosci., 20, 421-438.
22. Yoshida, T. and Mishina, M. (2008) Zebrafish orthologue of mental retardation protein IL1RAPL1 regulates presynaptic differentiation. Mol. Cell. Neurosci. [Epub ahead of print July 1].
23. Zheng, J.Q. and Poo, M.M. (2007) Calcium signaling in neuronal motility. Annu. Rev. Cell. Dev. Biol., 23, 375-404.
24. Krey, J.F. and Dolmetsch, R.E. (2007) Molecular mechanisms of autism: A possible role for Ca2+ signaling. Curr. Opin. Neurobiol., 17 112-119.
25. Splawski, I., Yoo, D.S., Stotz, S.C., Cherry, A., Clapham, D.E. and Keating, M.T. (2006) CACNA1H mutations in autism spectrum disorders. J. Biol. Chem., 281, 22085-22091.
26. Hope, C.I., Sharp, D.M., Hemara-Wahanui, A., Sissingh, J.I., Lundon, P., Mitchell, E.A., Maw, M.A. and Clover, G.M. (2005) Clinical manifestations of a unique X-linked retinal disorder in a large New Zealand family with a novel mutation in CACNA1F, the gene responsible for CSNB2. Clin. Exp. Ophthalmol., 33, 129-136.
27. 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) Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism. Cell, 119 19-31.
28. Laumonnier, F., Roger, S., Guerin, P., Molinari, F., M'Rad, R., Cahard, D., Belhadj, A., Halayem, M., Persico, A.M., Elia, M. et al. (2006) Association of a functional deficit of the BKCa channel, a synaptic regulator of neuronal excitability, with autism and mental retardation. Am. J. Psychiatry, 163, 1622-1629.
29. Tsigelny, I., Shindyalov, I.N., Bourne, P.E., Sudhof, T.C. and Taylor, P. (2000) Common EF-hand motifs in cholinesterases and neuroligins suggest a role for Ca2+ binding in cell surface associations. Protein Sci., 9, 180-185.
30. Zhang, H., Maximov, A., Fu, Y., Xu, F., Tang, T.S., Tkatch, T., Surmeier, D.J. and Bezprozvanny, I. (2005) Association of CaV1.3 L-type calcium channels with Shank. J. Neurosci., 25, 1037-1049.
31. Gauthier, J., Bonnel, A., St-Onge, J., Karemera, L., Laurent, S., Mottron, L., Fombonne, E., Joober, R. and Rouleau, G.A. (2005) NLGN3/ NLGN4 gene mutations are not responsible for autism in the Quebec population. Am. J. Med. Genet. B Neuropsychiatr. Genet., 132B 74-75.
32. Goslin, K. et al. (1998) Culturing Nerve Cells. MIT Press, Cambridge, pp. 339-370.