How to Cite this Article: Chen Y-Z, Matsushita M, Girirajan S, Lisowski M, Sun E, Sul Y, Bernier R, Estes A, Dawson G, Minshew N, Shellenberg GD, Eichler EE, Rieder MJ, Nickerson DA, Tsuang DW, Tsuang MT, Wijsman EM, Raskind WH, Brkanac Z. 2012. Evidence for Involvement of GNB1L in Autism. Am J Med Genet Part B 159B:61–71.
Research Article
Article first published online: 16 NOV 2011
DOI: 10.1002/ajmg.b.32002
Copyright © 2011 Wiley Periodicals, Inc.
Issue
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American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
Volume 159B, Issue 1, pages 61–71, January 2012
Additional Information
How to Cite
Chen, Y.-Z., Matsushita, M., Girirajan, S., Lisowski, M., Sun, E., Sul, Y., Bernier, R., Estes, A., Dawson, G., Minshew, N., Shellenberg, G. D., Eichler, E. E., Rieder, M. J., Nickerson, D. A., Tsuang, D. W., Tsuang, M. T., Wijsman, E. M., Raskind, W. H. and Brkanac, Z. (2012), Evidence for involvement of GNB1L in autism. Am. J. Med. Genet., 159B: 61–71. doi: 10.1002/ajmg.b.32002
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Wendy H. Raskind and Zoran Brkanac equally contributed to this work.
Publication History
- Issue published online: 16 DEC 2011
- Article first published online: 16 NOV 2011
- Manuscript Accepted: 21 OCT 2011
- Manuscript Received: 27 JUL 2011
REFERENCES
- , . 2008. Advances in autism genetics: On the threshold of a new neurobiology. Nat Rev Genet 9(5): 341–355.
- , , , , , , , , , . 2007. Autistic spectrum disorders in velo-cardio facial syndrome (22q11.2 deletion). J Autism Dev Disord 37(9): 1776–1786.
- , , . 2008. The neurocognitive phenotype in velo-cardio-facial syndrome: A developmental perspective. Dev Disabil Res Rev 14(1): 43–51.
- APA. 1994. Diagnostic and statistical manual of mental disorders. Washington DC: American Psychiatric Association.
- , , , , , , , , , , et al. 2008. Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders. Am J Hum Genet 82(1): 165–173.
- , , . 2010. Copy number variations in schizophrenia: Critical review and new perspectives on concepts of genetics and disease. Am J Psychiatry 167(8): 899–914.
- , , , , , , , , , , et al. 2010. Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation. Nat Genet 42(6): 489–491.
- , , , , , , , , , , et al. 2003. A population-based study of the 22q11.2 deletion: Phenotype, incidence, and contribution to major birth defects in the population. Pediatrics 112(1 Pt 1): 101–107.
- , , . 2001. Human studies of prepulse inhibition of startle: Normal subjects, patient groups, and pharmacological studies. Psychopharmacology (Berl) 156(2–3): 234–258.
- , , , , , , , , , , et al. 2007. The Consortium on the Genetics of Endophenotypes in Schizophrenia: Model recruitment, assessment, and endophenotyping methods for a multisite collaboration. Schizophr Bull 33(1): 33–48.
- , , , , , , , , , . 2011. Genome-scan for IQ discrepancy in autism: Evidence for loci on chromosomes 10 and 16. Hum Genet 129(1): 59–70.
- , . 2008. Copy-number variations associated with neuropsychiatric conditions. Nature 455(7215): 919–923.
- , , , , , . 2007. Quantitative assessment of autism symptom-related traits in probands and parents: Broader Phenotype Autism Symptom Scale. J Autism Dev Disord 37(3): 523–536.
- , , , , , , , , , , et al. 2007. Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders. Nat Genet 39(1): 25–27.
- , , , , , , , , , , et al. 2003. Microduplication 22q11.2, an emerging syndrome: Clinical, cytogenetic, and molecular analysis of thirteen patients. Am J Hum Genet 73(5): 1027–1040.
- , , , , , . 2005. PMUT: A web-based tool for the annotation of pathological mutations on proteins. Bioinformatics 21(14): 3176–3178.
- , , , , , , . 2005. Autism spectrum disorders and symptoms in children with molecularly confirmed 22q11.2 deletion syndrome. J Autism Dev Disord 35(4): 461–470.
- , , , , , , , , , . 1999. Der(22) syndrome and velo-cardio-facial syndrome/DiGeorge syndrome share a 1.5-Mb region of overlap on chromosome 22q11. Am J Hum Genet 64(3): 747–758.
- , , , , , , . 1998. Catechol-O-methyltransferase-deficient mice exhibit sexually dimorphic changes in catecholamine levels and behavior. Proc Natl Acad Sci USA 95(17): 9991–9996.
- , , , . 2000. GNB1L, a gene deleted in the critical region for DiGeorge syndrome on 22q11, encodes a G-protein beta-subunit-like polypeptide. Biochim Biophys Acta 1494(1–2): 185–188.
- , , , , , , , , , , et al. 2010. Evolutionary constraint facilitates interpretation of genetic variation in resequenced human genomes. Genome Res 20(3): 301–310.
- , , , , , , , , , , et al. 2005. COMT genotype predicts longitudinal cognitive decline and psychosis in 22q11.2 deletion syndrome. Nat Neurosci 8(11): 1500–1502.
- , , , . 2007. Conversion Technology for the separation of maternal and paternal copies of any autosomal chromosome in somatic cell hybrids. Curr Protoc Hum Genet 55: 3.6.1–3.6.38.
- , , , , . 2005. A survey of the 22q11 microdeletion in a large cohort of schizophrenia patients. Schizophr Res 73(2–3): 263–267.
- , , , , , , , , , , et al. 2010. Supportive evidence for reduced expression of GNB1L in schizophrenia. Schizophr Bull 36(4): 756–765.
- , , , , , , , , , , et al. 2003. Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism. Nat Genet 34(1): 27–29.
- , , , , , , , , , , et al. 2008. Disruption of neurexin 1 associated with autism spectrum disorder. Am J Hum Genet 82(1): 199–207.
- , , , , , , , , . 2011. Mutations in the TSGA14 gene in families with autism spectrum disorders. Am J Med Genet B Neuropsychiatr Genet 156(B): 303–311.
- , , , , , , , , , . 2011. Association study between GNB1L and three major mental disorders in Chinese Han populations. Psychiatry Res 187(3): 457–459.
- , , , , , , , , . 2004. Full spectrum of malformations in velo-cardio-facial syndrome/DiGeorge syndrome mouse models by altering Tbx1 dosage. Hum Mol Genet 13(15): 1577–1585.
- , , , , , , . 2009. Association of syndromic mental retardation and autism with 22q11.2 duplication. Neuropediatrics 40(3): 137–140.
- , , , , , , , . 2000. The autism diagnostic observation schedule-generic: A standard measure of social and communication deficits associated with the spectrum of autism. J Autism Dev Disord 30(3): 205–223.
- , , . 1994. Autism diagnostic interview-revised: A revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders. J Autism Dev Disord 24(5): 659–685.
- , , . 2007. Schizophrenia: A common disease caused by multiple rare alleles. Br J Psychiatry 190: 194–199.
- , , , , , , , , , , et al. 2007. Contribution of SHANK3 mutations to autism spectrum disorder. Am J Hum Genet 81(6): 1289–1297.
- , , , , , , , , . 1999. Psychoeducational profile of the 22q11.2 microdeletion: A complex pattern. J Pediatr 134(2): 193–198.
- , . 2007. Autistic disorder and 22q11.2 duplication. World J Biol Psychiatry 8(2): 127–130.
- . 2005. Annotation: Velo-cardio-facial syndrome. J Child Psychol Psychiatry 46(6): 563–571.
- , , . 1999. High rates of schizophrenia in adults with velo-cardio-facial syndrome. Arch Gen Psychiatry 56(10): 940–945.
- , . 2003. SIFT: Predicting amino acid changes that affect protein function. Nucleic Acids Res 31(13): 3812–3814.
- , , , . 2009. Autism, ADHD, mental retardation and behavior problems in 100 individuals with 22q11 deletion syndrome. Res Dev Disabil 30(4): 763–773.
- , , , , , , , , , , et al. 2011. Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathy. Am J Hum Genet 88(3): 273–282.
- , , . 2004. Incidence and prevalence of the 22q11 deletion syndrome: A population-based study in Western Sweden. Arch Dis Child 89(2): 148–151.
- , , , , , , , , , , et al. 2008. Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes. Genet Med 10(4): 267–277.
- , , , , , , , , , , et al. 2005. Transcriptional and behavioral interaction between 22q11.2 orthologs modulates schizophrenia-related phenotypes in mice. Nat Neurosci 8(11): 1586–1594.
- , , , , , , , , , , et al. 2006. Tbx1 haploinsufficiency is linked to behavioral disorders in mice and humans: Implications for 22q11 deletion syndrome. Proc Natl Acad Sci USA 103(20): 7729–7734.
- , , , , , . 2008. Microduplication 22q11.2 in a child with autism spectrum disorder: Clinical and genetic study. Dev Med Child Neurol 50(12): 953–955.
- , , . 2002. Human non-synonymous SNPs: Server and survey. Nucleic Acids Res 30(17): 3894–3900.
- , , , , , , , , , , et al. 2006. Evidence for multiple loci from a genome scan of autism kindreds. Mol Psychiatry 11(11): 1049–1060 979.
- , , , , , , , , , , et al. 2005. Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes. Genome Res 15(8): 1034–1050.
- , . 2002. Genome architecture, rearrangements and genomic disorders. Trends Genet 18(2): 74–82.
- , . 2010. Structural variation in the human genome and its role in disease. Annu Rev Med 61: 437–455.
- . 2010. The genetics of child psychiatric disorders: Focus on autism and Tourette syndrome. Neuron 68(2): 254–269.
- , , , , , , , , , , et al. 2007. Mutations in TBX1 genocopy the 22q11.2 deletion and duplication syndromes: A new susceptibility factor for mental retardation. Eur J Hum Genet 15(6): 658–663.
- , , , , , , , , , , et al. 2000. Department of Veterans Affairs Cooperative Studies Program genetic linkage study of schizophrenia: Ascertainment methods and sample description. Am J Med Genet 96(3): 342–347.
- , , , , , , , , . 2006. The 22q11.2 deletion in children: High rate of autistic disorders and early onset of psychotic symptoms. J Am Acad Child Adolesc Psychiatry 45(9): 1104–1113.
- . 1992. Wechsler intelligence scale for children - third edition (WISC-III). San Antonio: The Psychological Corporation.
- . 2002. Wechsler individual achievement test - second edition. San Antonio: The Psychological Corporation
- , , , , , . 2004. Assessment of the frequency of the 22q11 deletion in Afrikaner schizophrenic patients. Am J Med Genet B Neuropsychiatr Genet 129B(1): 20–22.
- , , , , , , , , , , et al. 2008. Strong evidence that GNB1L is associated with schizophrenia. Hum Mol Genet 17(4): 555–566.
- , , , , , , , , , , et al. 2003. Role of TBX1 in human del22q11.2 syndrome. Lancet 362(9393): 1366–1373.
- , , , , , , , , , , et al. 1998. Chromosome 22q11.2 interstitial deletions among childhood-onset schizophrenics and “multidimensionally impaired”. Am J Med Genet 81(1): 41–43.
- , , , , , , , , , , et al. 2005. Microduplication and triplication of 22q11.2: A highly variable syndrome. Am J Hum Genet 76(5): 865–876.
- , , , , , , , , . 2008. Familial 22q11.2 duplication: A three-generation family with a 3-Mb duplication and a familial 1.5-Mb duplication. Clin Genet 73(2): 160–164.
- , , , , . 2007. Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions. Am J Hum Genet 80(3): 510–517.

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