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Outcome of array CGH analysis for 255 subjects with intellectual disability and search for candidate genes using bioinformatics

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Abstract

Array CGH enables the detection of pathogenic copy number variants (CNVs) in 5–15% of individuals with intellectual disability (ID), making it a promising tool for uncovering ID candidate genes. However, most CNVs encompass multiple genes, making it difficult to identify key disease gene(s) underlying ID etiology. Using array CGH we identified 47 previously unreported unique CNVs in 45/255 probands. We prioritized ID candidate genes using five bioinformatic gene prioritization web tools. Gene priority lists were created by comparing integral genes from each CNV from our ID cohort with sets of training genes specific either to ID or randomly selected. Our findings suggest that different training sets alter gene prioritization only moderately; however, only the ID gene training set resulted in significant enrichment of genes with nervous system function (19%) in prioritized versus non-prioritized genes from the same de novo CNVs (7%, p < 0.05). This enrichment further increased to 31% when the five web tools were used in concert and included genes within mitogen-activated protein kinase (MAPK) and neuroactive ligand-receptor interaction pathways. Gene prioritization web tools enrich for genes with relevant function in ID and more readily facilitate the selection of ID candidate genes for functional studies, particularly for large CNVs.

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References

  • Adie EA, Adams RR, Evans KL, Porteous DJ, Pickard BS (2006) SUSPECTS: enabling fast and effective prioritization of positional candidates. Bioinformatics 22:773–774

    Article  CAS  PubMed  Google Scholar 

  • Aerts S, Lambrechts D, Maity S, Van Loo P, Coessens B, De Smet F, Tranchevent LC, De Moor B, Marynen P, Hassan B, Carmeliet P, Moreau Y (2006) Gene prioritization through genomic data fusion. Nat Biotechnol 24:537–544

    Article  CAS  PubMed  Google Scholar 

  • Aoki Y, Niihori T, Narumi Y, Kure S, Matsubara Y (2008) The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders. Hum Mutat 29:992–1006

    Article  CAS  PubMed  Google Scholar 

  • Borgatti R, Zucca C, Cavallini A, Ferrario M, Panzeri C, Castaldo P, Soldovieri MV, Baschirotto C, Bresolin N, Dalla Bernardina B, Taglialatela M, Bassi MT (2004) A novel mutation in KCNQ2 associated with BFNC, drug resistant epilepsy, and mental retardation. Neurology 63:57–65

    CAS  PubMed  Google Scholar 

  • Brymora A, Valova VA, Larsen MR, Roufogalis BD, Robinson PJ (2001) The brain exocyst complex interacts with RalA in a GTP-dependent manner: identification of a novel mammalian Sec3 gene and a second Sec15 gene. J Biol Chem 276:29792–29797

    Article  CAS  PubMed  Google Scholar 

  • Bult CJ, Eppig JT, Kadin JA, Richardson JE, Blake JA (2008) The Mouse Genome Database (MGD): mouse biology and model systems. Nucl Acids Res 36:D724–D728

    Article  CAS  PubMed  Google Scholar 

  • Chang JT, Nevins JR (2006) GATHER: a systems approach to interpreting genomic signatures. Bioinformatics 22:2926–2933

    Article  CAS  PubMed  Google Scholar 

  • Chelly J, Khelfaoui M, Francis F, Cherif B, Bienvenu T (2006) Genetics and pathophysiology of mental retardation. Eur J Hum Genet 14:701–713

    Article  CAS  PubMed  Google Scholar 

  • Chen J, Bardes EE, Aronow BJ, Jegga AG (2009) ToppGene Suite for gene list enrichment analysis and candidate gene prioritization. Nucl Acids Res 37:W305–W311

    Article  CAS  PubMed  Google Scholar 

  • de Vries BB, White SM, Knight SJ, Regan R, Homfray T, Young ID, Super M, McKeown C, Splitt M, Quarrell OW, Trainer AH, Niermeijer MF, Malcolm S, Flint J, Hurst JA, Winter RM (2001) Clinical studies on submicroscopic subtelomeric rearrangements: a checklist. J Med Genet 38:145–150

    Article  PubMed  Google Scholar 

  • do Rego JC, Leprince J, Scalbert E, Vaudry H, Costentin J (2008) Behavioral actions of urotensin-II. Peptides 29:838–844

    Article  CAS  PubMed  Google Scholar 

  • Doh-ura K, Mekada E, Ogomori K, Iwaki T (2000) Enhanced CD9 expression in the mouse and human brains infected with transmissible spongiform encephalopathies. J Neuropathol Exp Neurol 59:774–785

    CAS  PubMed  Google Scholar 

  • Draghici S, Khatri P, Bhavsar P, Shah A, Krawetz SA, Tainsky MA (2003) Onto-Tools, the toolkit of the modern biologist: Onto-Express, Onto-Compare, Onto-Design and Onto-Translate. Nucl Acids Res 31:3775–3781

    Article  CAS  PubMed  Google Scholar 

  • Elbers CC, Onland-Moret NC, Franke L, Niehoff AG, van der Schouw YT, Wijmenga C (2007) A strategy to search for common obesity and type 2 diabetes genes. Trends Endocrinol Metab 18:19–26

    Article  CAS  PubMed  Google Scholar 

  • Elghezal H, Hannachi H, Mougou S, Kammoun H, Triki C, Saad A (2007) Ring chromosome 20 syndrome without deletions of the subtelomeric and CHRNA4–KCNQ2 genes loci. Eur J Med Genet 50:441–445

    Article  PubMed  Google Scholar 

  • Eppig JT, Blake JA, Bult CJ, Richardson JE, Kadin JA, Ringwald M (2007) Mouse genome informatics (MGI) resources for pathology and toxicology. Toxicol Pathol 35:456–457

    Article  PubMed  Google Scholar 

  • Fan YS, Jayakar P, Zhu H, Barbouth D, Sacharow S, Morales A, Carver V, Benke P, Mundy P, Elsas LJ (2007) Detection of pathogenic gene copy number variations in patients with mental retardation by genomewide oligonucleotide array comparative genomic hybridization. Hum Mutat 28:1124–1132

    Article  CAS  PubMed  Google Scholar 

  • Gibson WT, Harvard C, Qiao Y, Somerville MJ, Lewis ME, Rajcan-Separovic E (2008) Phenotype-genotype characterization of alpha-thalassemia mental retardation syndrome due to isolated monosomy of 16p13.3. Am J Med Genet A 146A:225–232

    Article  CAS  PubMed  Google Scholar 

  • Harmar AJ, Marston HM, Shen S, Spratt C, West KM, Sheward WJ, Morrison CF, Dorin JR, Piggins HD, Reubi JC, Kelly JS, Maywood ES, Hastings MH (2002) The VPAC(2) receptor is essential for circadian function in the mouse suprachiasmatic nuclei. Cell 109:497–508

    Article  CAS  PubMed  Google Scholar 

  • Harvard C, Malenfant P, Koochek M, Creighton S, Mickelson EC, Holden JJ, Lewis ME, Rajcan-Separovic E (2005) A variant Cri du Chat phenotype and autism spectrum disorder in a subject with de novo cryptic microdeletions involving 5p15.2 and 3p24.3-25 detected using whole genomic array CGH. Clin Genet 67:341–351

    Article  CAS  PubMed  Google Scholar 

  • Henkemeyer M, Rossi DJ, Holmyard DP, Puri MC, Mbamalu G, Harpal K, Shih TS, Jacks T, Pawson T (1995) Vascular system defects and neuronal apoptosis in mice lacking ras GTPase-activating protein. Nature 377:695–701

    Article  CAS  PubMed  Google Scholar 

  • Huang QY, Li GH, Cheung WM, Song YQ, Kung AW (2008) Prediction of osteoporosis candidate genes by computational disease-gene identification strategy. J Hum Genet 53:644–655

    Article  CAS  PubMed  Google Scholar 

  • Jaillard S, Dubourg C, Gerard-Blanluet M, Delahaye A, Pasquier L, Dupont C, Henry C, Tabet AC, Lucas J, Aboura A, David V, Benzacken B, Odent S, Pipiras E (2009) 2q23.1 microdeletion identified by array-CGH: an emerging phenotype with Angelman-like features? J Med Genet 46(12):847–855

    Article  CAS  PubMed  Google Scholar 

  • Kanehisa M, Bork P (2003) Bioinformatics in the post-sequence era. Nat Genet 33(Suppl):305–310

    Article  CAS  PubMed  Google Scholar 

  • Kleefstra T, Brunner HG, Amiel J, Oudakker AR, Nillesen WM, Magee A, Genevieve D, Cormier-Daire V, van Esch H, Fryns JP, Hamel BC, Sistermans EA, de Vries BB, van Bokhoven H (2006) Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome. Am J Hum Genet 79:370–377

    Article  CAS  PubMed  Google Scholar 

  • Knight SJ, Regan R, Nicod A, Horsley SW, Kearney L, Homfray T, Winter RM, Bolton P, Flint J (1999) Subtle chromosomal rearrangements in children with unexplained mental retardation. Lancet 354:1676–1681

    Article  CAS  PubMed  Google Scholar 

  • Kohler S, Bauer S, Horn D, Robinson PN (2008) Walking the interactome for prioritization of candidate disease genes. Am J Hum Genet 82:949–958

    Article  PubMed  Google Scholar 

  • Koolen DA, Sharp AJ, Hurst JA, Firth HV, Knight SJ, Goldenberg A, Saugier-Veber P, Pfundt R, Vissers LE, Destree A, Grisart B, Rooms L, Van der Aa N, Field M, Hackett A, Bell K, Nowaczyk MJ, Mancini GM, Poddighe PJ, Schwartz CE, Rossi E, De Gregori M, Antonacci-Fulton LL, McLellan MD 2nd, Garrett JM, Wiechert MA, Miner TL, Crosby S, Ciccone R, Willatt L, Rauch A, Zenker M, Aradhya S, Manning MA, Strom TM, Wagenstaller J, Krepischi-Santos AC, Vianna-Morgante AM, Rosenberg C, Price SM, Stewart H, Shaw-Smith C, Brunner HG, Wilkie AO, Veltman JA, Zuffardi O, Eichler EE, de Vries BB (2008) Clinical and molecular delineation of the 17q21.31 microdeletion syndrome. J Med Genet 45:710–720

    Article  CAS  PubMed  Google Scholar 

  • Koolen DA, Pfundt R, de Leeuw N, Hehir-Kwa JY, Nillesen WM, Neefs I, Scheltinga I, Sistermans E, Smeets D, Brunner HG, van Kessel AG, Veltman JA, de Vries BB (2009) Genomic microarrays in mental retardation: a practical workflow for diagnostic applications. Hum Mutat 30:283–292

    Article  PubMed  Google Scholar 

  • Kramer JM, van Bokhoven H (2009) Genetic and epigenetic defects in mental retardation. Int J Biochem Cell Biol 41:96–107

    Article  CAS  PubMed  Google Scholar 

  • Kumar RA, Sudi J, Babatz TD, Brune CW, Oswald D, Yen M, Nowak NJ, Cook EH, Christian SL, Dobyns WB (2009) A de novo 1p34.2 microdeletion identifies the synaptic vesicle gene RIMS3 as a novel candidate for autism. J Med Genet 47(2):81–90

    Article  PubMed  Google Scholar 

  • Ladera C, Martin R, Bartolome-Martin D, Torres M, Sanchez-Prieto J (2009) Partial compensation for N-type Ca(2+) channel loss by P/Q-type Ca(2+) channels underlines the differential release properties supported by these channels at cerebrocortical nerve terminals. Eur J Neurosci 29:1131–1140

    Article  PubMed  Google Scholar 

  • Laroche F, Ramoz N, Leroy S, Fortin C, Rousselot-Paillet B, Philippe A, Colleaux L, Bresson JL, Mogenet A, Golse B, Mouren-Simeoni MC, Gorwood P, Galli T, Simonneau M, Krebs MO, Robel L (2008) Polymorphisms of coding trinucleotide repeats of homeogenes in neurodevelopmental psychiatric disorders. Psychiatr Genet 18:295–301

    Article  PubMed  Google Scholar 

  • Lee S, Walker CL, Karten B, Kuny SL, Tennese AA, O’Neill MA, Wevrick R (2005) Essential role for the Prader-Willi syndrome protein necdin in axonal outgrowth. Hum Mol Genet 14:627–637

    Article  CAS  PubMed  Google Scholar 

  • Lee C, Iafrate AJ, Brothman AR (2007) Copy number variations and clinical cytogenetic diagnosis of constitutional disorders. Nat Genet 39:S48–S54

    Article  CAS  PubMed  Google Scholar 

  • Letts VA, Valenzuela A, Dunbar C, Zheng QY, Johnson KR, Frankel WN (2000) A new spontaneous mouse mutation in the Kcne1 gene. Mamm Genome 11:831–835

    Article  CAS  PubMed  Google Scholar 

  • Lipton SA, Li H, Zaremba JD, McKercher SR, Cui J, Kang YJ, Nie Z, Soussou W, Talantova M, Okamoto S, Nakanishi N (2009) Autistic phenotype from MEF2C knockout cells. Science 323:208

    Article  CAS  PubMed  Google Scholar 

  • Liu XG, Liu YJ, Liu J, Pei Y, Xiong DH, Shen H, Deng HY, Papasian CJ, Drees BM, Hamilton JJ, Recker RR, Deng HW (2008) A bivariate whole genome linkage study identified genomic regions influencing both BMD and bone structure. J Bone Miner Res 23:1806–1814

    Article  PubMed  Google Scholar 

  • Maclean G, Dolle P, Petkovich M (2009) Genetic disruption of CYP26B1 severely affects development of neural crest derived head structures, but does not compromise hindbrain patterning. Dev Dyn 238:732–745

    Article  CAS  PubMed  Google Scholar 

  • Manabe T, Noda Y, Mamiya T, Katagiri H, Houtani T, Nishi M, Noda T, Takahashi T, Sugimoto T, Nabeshima T, Takeshima H (1998) Facilitation of long-term potentiation and memory in mice lacking nociceptin receptors. Nature 394:577–581

    Article  CAS  PubMed  Google Scholar 

  • Meng H, Lee VM (2009) Differential expression of sphingosine-1-phosphate receptors 1–5 in the developing nervous system. Dev Dyn 238:487–500

    Article  CAS  PubMed  Google Scholar 

  • Nakajima K, Sakurai A, Kubota T, Katai M, Mori J, Aizawa T, Fukushima Y, Hashizume K (1999) Multiple endocrine neoplasia type 1 concomitant with Prader-Willi syndrome: case report and genetic diagnosis. Am J Med Sci 317:346–349

    Article  CAS  PubMed  Google Scholar 

  • Osoegawa K, Vessere GM, Utami KH, Mansilla MA, Johnson MK, Riley BM, L’Heureux J, Pfundt R, Staaf J, van der Vliet WA, Lidral AC, Schoenmakers EF, Borg A, Schutte BC, Lammer EJ, Murray JC, de Jong PJ (2008) Identification of novel candidate genes associated with cleft lip and palate using array comparative genomic hybridisation. J Med Genet 45:81–86

    Article  CAS  PubMed  Google Scholar 

  • Pfeifer D, Poulat F, Holinski-Feder E, Kooy F, Scherer G (2000) The SOX8 gene is located within 700 kb of the tip of chromosome 16p and is deleted in a patient with ATR-16 syndrome. Genomics 63:108–116

    Article  CAS  PubMed  Google Scholar 

  • Qiao Y, Harvard C, Riendeau N, Fawcett C, Liu X, Holden JJ, Lewis ME, Rajcan-Separovic E (2008) Putatively benign copy number variants in subjects with idiopathic autism spectrum disorder and/or intellectual disability. Cytogenet Genome Res 123:79–87

    Article  CAS  PubMed  Google Scholar 

  • Qiao Y, Riendeau N, Koochek M, Liu X, Harvard C, Hildebrand MJ, Holden JJ, Rajcan-Separovic E, Lewis ME (2009) Phenomic determinants of genomic variation in autism spectrum disorders. J Med Genet 46(10):680–688

    Article  CAS  PubMed  Google Scholar 

  • Rajcan-Separovic E, Harvard C, Liu X, McGillivray B, Hall JG, Qiao Y, Hurlburt J, Hildebrand J, Mickelson EC, Holden JJ, Lewis ME (2007) Clinical and molecular cytogenetic characterisation of a newly recognised microdeletion syndrome involving 2p15-16.1. J Med Genet 44:269–276

    Article  CAS  PubMed  Google Scholar 

  • Rajcan-Separovic E, Qiao Y, Tyson C, Harvard C, Fawcett C, Kalousek D, Stephenson M, Philipp T (2010) Genomic changes detected by array CGH in human embryos with developmental defects. Mol Hum Reprod 16:125–134

    Article  CAS  PubMed  Google Scholar 

  • Roeleveld N, Zielhuis GA, Gabreels F (1997) The prevalence of mental retardation: a critical review of recent literature. Dev Med Child Neurol 39:125–132

    CAS  PubMed  Google Scholar 

  • Schlaubitz S, Yatsenko SA, Smith LD, Keller KL, Vissers LE, Scott DA, Cai WW, Reardon W, Abdul-Rahman OA, Lammer EJ, Lifchez CA, Magenis E, Veltman JA, Stankiewicz P, Zabel BU, Lee B (2007) Ovotestes and XY sex reversal in a female with an interstitial 9q33.3–q34.1 deletion encompassing NR5A1 and LMX1B causing features of Genitopatellar syndrome. Am J Med Genet A 143A:1071–1081

    Article  CAS  PubMed  Google Scholar 

  • Stein LD (2003) Integrating biological databases. Nat Rev Genet 4:337–345

    Article  CAS  PubMed  Google Scholar 

  • Sweatt JD (2001) The neuronal MAP kinase cascade: a biochemical signal integration system subserving synaptic plasticity and memory. J Neurochem 76:1–10

    Article  CAS  PubMed  Google Scholar 

  • Tebar LA, Geranton SM, Parsons-Perez C, Fisher AS, Bayne R, Smith AJ, Turmaine M, Perez-Luz S, Sheasby A, De Felipe C, Ruff C, Raivich G, Hunt SP (2008) Deletion of the mouse RegIIIbeta (Reg2) gene disrupts ciliary neurotrophic factor signaling and delays myelination of mouse cranial motor neurons. Proc Natl Acad Sci USA 105:11400–11405

    Article  CAS  PubMed  Google Scholar 

  • Teber ET, Liu JY, Ballouz S, Fatkin D, Wouters MA (2009) Comparison of automated candidate gene prediction systems using genes implicated in type 2 diabetes by genome-wide association studies. BMC Bioinformatics 10(Suppl 1):S69

    Article  PubMed  Google Scholar 

  • Thornblad TA, Elliott KS, Jowett J, Visscher PM (2007) Prioritization of positional candidate genes using multiple web-based software tools. Twin Res Hum Genet 10:861–870

    Article  PubMed  Google Scholar 

  • Tiffin N, Adie E, Turner F, Brunner HG, van Driel MA, Oti M, Lopez-Bigas N, Ouzounis C, Perez-Iratxeta C, Andrade-Navarro MA, Adeyemo A, Patti ME, Semple CA, Hide W (2006) Computational disease gene identification: a concert of methods prioritizes type 2 diabetes and obesity candidate genes. Nucl Acids Res 34:3067–3081

    Article  CAS  PubMed  Google Scholar 

  • Tiffin N, Okpechi I, Perez-Iratxeta C, Andrade-Navarro MA, Ramesar R (2008) Prioritization of candidate disease genes for metabolic syndrome by computational analysis of its defining phenotypes. Physiol Genomics 35:55–64

    Article  CAS  PubMed  Google Scholar 

  • Tranchevent LC, Barriot R, Yu S, Van Vooren S, Van Loo P, Coessens B, De Moor B, Aerts S, Moreau Y (2008) ENDEAVOUR update: a web resource for gene prioritization in multiple species. Nucl Acids Res 36:W377–W384

    Article  CAS  PubMed  Google Scholar 

  • Tyson C, McGillivray B, Chijiwa C, Rajcan-Separovic E (2004) Elucidation of a cryptic interstitial 7q31.3 deletion in a patient with a language disorder and mild mental retardation by array-CGH. Am J Med Genet A 129A:254–260

    Article  PubMed  Google Scholar 

  • Tyson C, Harvard C, Locker R, Friedman JM, Langlois S, Lewis ME, Van Allen M, Somerville M, Arbour L, Clarke L, McGilivray B, Yong SL, Siegel-Bartel J, Rajcan-Separovic E (2005) Submicroscopic deletions and duplications in individuals with intellectual disability detected by array-CGH. Am J Med Genet A 139:173–185

    CAS  PubMed  Google Scholar 

  • van Vlijmen T, Vleugel M, Evers M, Mohammed S, Wulf PS, Heck AJ, Hoogenraad CC, van der Sluijs P (2008) A unique residue in rab3c determines the interaction with novel binding protein Zwint-1. FEBS Lett 582:2838–2842

    Article  PubMed  Google Scholar 

  • Varela MC, Krepischi-Santos AC, Paz JA, Knijnenburg J, Szuhai K, Rosenberg C, Koiffmann CP (2006) A 17q21.31 microdeletion encompassing the MAPT gene in a mentally impaired patient. Cytogenet Genome Res 114:89–92

    Article  CAS  PubMed  Google Scholar 

  • Vissers LE, van Ravenswaaij CM, Admiraal R, Hurst JA, de Vries BB, Janssen IM, van der Vliet WA, Huys EH, de Jong PJ, Hamel BC, Schoenmakers EF, Brunner HG, Veltman JA, van Kessel AG (2004) Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. Nat Genet 36:955–957

    Article  CAS  PubMed  Google Scholar 

  • Vissers LE, Veltman JA, van Kessel AG, Brunner HG (2005) Identification of disease genes by whole genome CGH arrays. Hum Mol Genet 14(Spec no. 2):R215–R223

    Article  CAS  PubMed  Google Scholar 

  • von Mering C, Jensen LJ, Kuhn M, Chaffron S, Doerks T, Kruger B, Snel B, Bork P (2007) STRING 7—recent developments in the integration and prediction of protein interactions. Nucl Acids Res 35:D358–D362

    Article  Google Scholar 

  • Webber C, Hehir-Kwa JY, Nguyen DQ, de Vries BB, Veltman JA, Ponting CP (2009) Forging links between human mental retardation-associated CNVs and mouse gene knockout models. PLoS Genet 5:e1000531

    Article  PubMed  Google Scholar 

  • Yonan AL, Palmer AA, Smith KC, Feldman I, Lee HK, Yonan JM, Fischer SG, Pavlidis P, Gilliam TC (2003) Bioinformatic analysis of autism positional candidate genes using biological databases and computational gene network prediction. Genes Brain Behav 2:303–320

    Article  CAS  PubMed  Google Scholar 

  • Yoshida Y, Makita Y, Heida N, Asano S, Matsushima A, Ishii M, Mochizuki Y, Masuya H, Wakana S, Kobayashi N, Toyoda T (2009) PosMed (Positional Medline): prioritizing genes with an artificial neural network comprising medical documents to accelerate positional cloning. Nucleic Acids Res 37:W147–W152

    Article  CAS  PubMed  Google Scholar 

  • Zeniou M, Ding T, Trivier E, Hanauer A (2002) Expression analysis of RSK gene family members: the RSK2 gene, mutated in Coffin-Lowry syndrome, is prominently expressed in brain structures essential for cognitive function and learning. Hum Mol Genet 11:2929–2940

    Article  CAS  PubMed  Google Scholar 

  • Zhang B, Kirov S, Snoddy J (2005) WebGestalt: an integrated system for exploring gene sets in various biological contexts. Nucl Acids Res 33:W741–W748

    Article  CAS  PubMed  Google Scholar 

Download references

Acknowledgments

This work was supported by funding from the Canadian Institutes for Health Research (CIHR) (MOP 74502; PI: ERS and MOP 64217; PI: MESL), Establishment Grant funding from the Michael Smith Foundation for Health Research (MESL) and an Ontario Mental Health Foundation grant (PI: JJAH). PP is supported by a career award from the Michael Smith Foundation for Health Research, a CIHR New Investigator award, the Canadian Foundation for Innovation, and a Human Brain Project grant from the National Institutes of Health (GM076990). YQ is a trainee with the CIHR/NAAR-Autism Speaks STIHR Inter-Institute Autism Spectrum Disorders Training Program (PI: JJAH). ERS is supported by a CIHR Institute of Genetics Clinician Investigator Award (2005–2009). MESL and ERS are Career Scholars supported by the Michael Smith Foundation for Health Research. The authors appreciate the collaboration and support of the participating subjects and their families.

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Authors and Affiliations

  1. Department of Pathology (Cytogenetics), Child and Family Research Institute, University of British Columbia (UBC), 950 West 28th, Room 3060, Vancouver, BC, V5Z 4H4, Canada

    Y. Qiao, C. Harvard & E. Rajcan-Separovic

  2. Department of Medical Genetics, Child and Family Research Institute, UBC, Vancouver, BC, Canada

    Y. Qiao & M. E. S. Lewis

  3. Cytogenetics Lab, Royal Columbian Hospital, New Westminster, BC, Canada

    C. Tyson & C. Fawcett

  4. Department of Psychiatry, Queen’s University, Kingston, ON, Canada

    X. Liu & J. J. A. Holden

  5. Centre for High-Throughput Biology, UBC, Vancouver, BC, Canada

    P. Pavlidis

  6. Department of Physiology, Queen’s University, Kingston, ON, Canada

    J. J. A. Holden

  7. Cytogenetics and DNA Research Laboratory, Onganada, Kingston, ON, Canada

    J. J. A. Holden

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  1. Y. Qiao
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  2. C. Harvard
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  3. C. Tyson
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  4. X. Liu
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  5. C. Fawcett
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  8. M. E. S. Lewis
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  9. E. Rajcan-Separovic
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Correspondence to E. Rajcan-Separovic.

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Qiao, Y., Harvard, C., Tyson, C. et al. Outcome of array CGH analysis for 255 subjects with intellectual disability and search for candidate genes using bioinformatics. Hum Genet 128, 179–194 (2010). https://doi.org/10.1007/s00439-010-0837-0

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