Characterization of a de novo translocation t(5;18)(q33.1;q12.1) in an autistic boy identifies a breakpoint close to SH3TC2, ADRB2, and HTR4 on 5q, and within the desmocollin gene cluster on 18q

American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics

Volumn 150, Issue 6, 2009, Pages 817-826

  Vincent, John B ^a   Noor, Abdul ^a   Windpassinger, Christian ^a,b   Gianakopoulos, Peter J ^a   Schwarzbraun, Thomas ^b   Alfred, Simon E ^a   Stachowiak, Beata ^a   Scherer, Stephen W ^c   Roberts, Wendy ^c   Wagner, Klaus ^b   Kroisel, Peter M ^b   Petek, Erwin ^b  

^a CENTRE FOR ADDICTION AND MENTAL HEALTH   (Canada)

^b MEDICAL UNIVERSITY OF GRAZ   (Austria)

^c HOSPITAL FOR SICK CHILDREN   (Canada)

Author keywords

ADRB2; Autism; Desmocollin; HTR4; SH3TC; Translocation

Indexed keywords

BETA 2 ADRENERGIC RECEPTOR; DESMOCOLLIN; DESMOCOLLIN 1; DESMOCOLLIN 2; PROTEIN SH3; SEROTONIN 4 RECEPTOR; SH3 DOMAIN AND TETRATRICOPEPTIDE REPEATS 2 PROTEIN; UNCLASSIFIED DRUG;

ALLELE; ARTICLE; AUTISM; CASE REPORT; CHROMOSOME 12Q; CHROMOSOME 18Q; CHROMOSOME 5; CHROMOSOME 5Q; CHROMOSOME TRANSLOCATION 18; CHROMOSOME TRANSLOCATION 5; GENE CLUSTER; GENE EXPRESSION; GENETIC ANALYSIS; GENETIC TRANSCRIPTION; GENOMICS; HUMAN; HUMAN CELL; MALE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL;

AUTISTIC DISORDER; BASE SEQUENCE; CHROMOSOME BREAKAGE; CHROMOSOMES, HUMAN, PAIR 18; CHROMOSOMES, HUMAN, PAIR 5; DESMOCOLLINS; DNA MUTATIONAL ANALYSIS; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MULTIGENE FAMILY; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEINS; RECEPTORS, ADRENERGIC, BETA-2; RECEPTORS, SEROTONIN; TRANSLOCATION, GENETIC;

EID: 69049102089     PISSN: 15524841     EISSN: 1552485X     Source Type: Journal    
DOI: 10.1002/ajmg.b.30903     Document Type: Article

References (35)

1. Blondel O, Gastineau M, Dahmoune Y, Langlois M, Fischmeister R. 1998. Cloning, expression, and pharmacology of four human 5-hydroxytryptamine 4 receptor isoforms produced by alternative splicing in the carboxyl terminus. J Neurochem 70:2252-2261.
2. Castermans D, Wilquet V, Parthoens E, Huysmans C, Steyaert J, Swinnen L, Fryns JP, Van de Ven W, Devriendt K. 2003. The neurobeachin gene is disrupted by a translocation in a patient with idiopathic autism. J Med Genet 40:352-356.
3. Cheslack-Postava K, Fallin MD, Avramopoulos D, Connors SL, Zimmerman AW, Eberhart CG, Newschaffer CJ. 2007. Beta2-Adrenergic receptor gene variants and risk for autism in the AGRE cohort. Mol Psychiatry 12:283-291.
4. Chruscinski AJ, Rohrer DK, Schauble E, Desai KH, Bernstein D, Kobilka BK. 1999. Targeted disruption of the beta2 adrenergic receptor gene. J Biol Chem 274:16694-16700.
5. Claeysen S, Faye P, Sebben M, Taviaux S, Bockaert J, Dumuis A. 1998. 5-HT4 receptors: Cloning and expression of new splice variants. Ann NY Acad Sci 861:49-56.
6. Claeysen S, Sebben M, Becamel C, Bockaert J, Dumuis A. 1999. Novel brain -specific 5-HT4 receptor splice variants show marked constitutive activity: Role of the C-terminal intracellular domain. Mol Pharmacol 55:910-920.
7. Connors SL, Crowell DE, Eberhart CG, Copeland J, Newschaffer CJ, Spence SJ, Zimmerman AW. 2005. beta2-adrenergic receptor activation and genetic polymorphisms in autism: Data from dizygotic twins. J Child Neurol 20:876-884.
8. Dibbens LM, Tarpey PS, Hynes K, Bayly MA, Scheffer IE, Smith R, Bomar J, Sutton E, Vandeleur L, Shoubridge C, Edkins S, Turner SJ, Stevens C, O'Meara S, Tofts C, Barthorpe S, Buck G, Cole J, Halliday K, Jones D, Lee R, Madison M, Mironenko T, Varian J, West S, Widaa S, Wray P, Teague J, Dicks E, Butler A, Menzies A, Jenkinson A, Shepherd R, Gusella JF, Afawi Z, Mazarib A, Neufeld MY, Kivity S, Lev D, Lerman-Sagie T, Korczyn AD, Derry CP, Sutherland GR, Friend K, Shaw M, Corbett M, Kim HG, Geschwind DH, Thomas P, Haan E, Ryan S, McKee S, Berkovic SF, Futreal PA, Stratton MR, Mulley JC, Gécz J. 2008. X-linked proto-cadherin 19 mutations cause female-limited epilepsy and cognitive impairment. Nat Genet 40:776-781.
9. Dishy V, Sofowora GG, Xie HG, Kim RB, Byrne DW, Stein CM, Wood AJ. 2001. The effect of common polymorphisms of the beta2-adrenergic receptor on agonist-mediated vascular desensitization. N Engl J Med 345:1030-1035.
10. Hegde SS, Eglen RM. 1996. Peripheral 5-HT4 receptors. FASEB J 10:1398-1407.
11. Heuser A, Plovie ER, Ellinor PT, Grossmann KS, Shin JT, Wichter T, Basson CT, Lerman BB, Sasse-Klaassen S, Thierfelder L, MacRae CA, Gerull B. 2006. Mutant desmocollin-2 causes arrhythmogenic right ventricular cardiomyopathy. Am J Hum Genet 79:1081-1088.
12. Iafrate AJ, Feuk L, Rivera MN, Listewnik ML, Donahoe PK, Qi Y, Scherer SW, Lee C. 2004. Detection of large-scale variation in the human genome. Nat Genet 36:949-951.
13. Ishikawa-Brush Y, Powell JF, Bolton P, Miller AP, Francis F, Willard HF, Lehrach H, Monaco AP. 1997. Autism and multiple exostoses associated with an X;8 translocation occurring within the GRPR gene and 3′ to the SDC2 gene. Hum Mol Genet 6:1241-1250.
14. Kroisel PM, Windpassinger C, Wagner K, Petek E, Vincent JB, Scherer SW, Spiel G, Artner V, Valtiner E. 2004. De novo translocation t(5;18)-(q33.1;q12.1) associated with autistic disorder. Am J Med Genet Part A 129A:98-100.
15. Lai CS, Fisher SE, Hurst JA, Vargha-Khadem F, Monaco AP. 2001. A forkhead-domain gene is mutated in a severe speech and language disorder. Nature 413:519-523.
16. Li C, Wong WH. 2001a. Model-based analysis of oligonucleotide arrays: Expression index computation and outlier detection. Proc Natl Acad Sci USA 98:31-36.
17. Li C, Wong WH. 2001b. Model-based analysis of oligonucleotide arrays: model validation, design issues and standard error application. Genome Biol 2:research/0032.1-11.
18. Li C, Wong WH. 2003. DNA-Chip Analyzer (dChip). In: Parmigiani G, Garrett ES, Irizarry R, Zeger SL, editors. The analysis of gene expression data: Methods and software. New York: Springer.
19. Lord C, Rutter M, Goode S, Heemsbergen J, Jordan H, Mawhood L, Schopler E. 1989. Autism diagnostic observation schedule: A standardized observation of communicative and social behavior. J Autism Dev Disord 19:185-212.
20. Lord C, Rutter M, Le Couteur A. 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 24:659-685.
21. Ma DQ, Whitehead PL, Menold MM, Martin ER, Ashley-Koch AE, Mei H, Ritchie MD, Delong GR, Abramson RK, Wright HH, Cuccaro ML, Hussman JP, Gilbert JR, Pericak-Vance MA. 2005. Identification of significant association and gene-gene interaction of GABA receptor subunit genes in autism. Am J Hum Genet 77:377-388.
22. Marshall CR, Noor A, Vincent JB, Lionel AC, Feuk L, Skaug J, Shago M, Moessner R, Pinto D, Ren Y, Thiruvahindrapduram B, Fiebig A, Schreiber S, Friedman J, Ketelaars CEJ, Vos YJ, Ficicioglu C, Kirkpatrick S, Nicholson R, Sloman L, Summers A, Gibbons CA, Teebi A, Chitayat D, Weksberg R, Thompson A, Vardy C, Crosbie V, Luscombe S, Baatjes R, Zwaigenbaum L, Roberts W, Fernandez B, Szatmari P, Scherer SW. 2008. Structural variation of chromosomes in autism spectrum disorder. Am J Hum Genet 82:477-488.
23. Medhurst AD, Lezoualc'h F, Fischmeister R, Middlemiss DN, Sanger GJ. 2001. Quantitative mRNA analysis of five C-terminal splice variants of the human 5-HT4 receptor in the central nervous system by TaqMan real time RT-PCR. Brain Res Mol Brain Res 90:125-134.
24. Millar JK, Wilson-Annan JC, Anderson S, Christie S, Taylor MS, Semple CA, Devon RS, Clair DM, Muir WJ, Blackwood DH, Porteous DJ. 2000. Disruption of two novel genes by a translocation co-segregating with schizophrenia. Hum Mol Genet 9:1415-1423.
25. Millar JK, Christie S, Anderson S, Lawson D, Hsiao-Wei Loh D, Devon RS, Arveiler B, Muir WJ, Blackwood DH, Porteous DJ. 2001. Genomic structure and localisation within a linkage hotspot of Disrupted In Schizophrenia 1, a gene disrupted by a translocation segregating with schizophrenia. Mol Psychiatr 6:173-178.
26. Morrow EM, Yoo SY, Flavell SW, Kim TK, Lin Y, Hill RS, Mukaddes NM, Balkhy S, Gascon G, Hashmi A, Al-Saad S, Ware J, Joseph RM, Greenblatt R, Gleason D, Ertelt JA, Apse KA, Bodell A, Partlow JN, Barry B, Yao H, Markianos K, Ferland RJ, Greenberg ME, Walsh CA. 2008. Identifying autism loci and genes by tracing recent shared ancestry. Science 321:218-223.
27. Ohtsuki T, Ishiguro H, Detera-Wadleigh SD, Toyota T, Shimizu H, Yamada K, Yoshitsugu K, Hattori E, Yoshikawa T, Arinami T. 2002. Association between serotonin 4 receptor gene polymorphisms and bipolar disorder in Japanese case-control samples and the NIMH Genetics Initiative Bipolar Pedigrees. Mol Psychiatry 7:954-961.
28. Senderek J, Bergmann C, Stendel C, Kirfel J, Verpoorten N, De Jonghe P, Timmerman V, Chrast R, Verheijen MH, Lemke G, Battaloglu E, Parman Y, Erdem S, Tan E, Topaloglu H, Hahn A, Muller-Felber W, Rizzuto N, Fabrizi GM, Stuhrmann M, Rudnik-Schoneborn S, Zuchner S, Michael Schroder J, Buchheim E, Straub V, Klepper J, Huehne K, Rautenstrauss B, Buttner R, Nelis E, Zerres K. 2003. Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy. Am J Hum Genet 73: 1106-1119.
29. Sultana R, Yu CE, Yu J, Munson J, Chen D, Hua W, Estes A, Cortes F, de la Barra F, Yu D, Haider ST, Trask BJ, Green ED, Raskind WH, Disteche CM, Wijsman E, Dawson G, Storm DR, Schellenberg GD, Villacres EC. 2002. Identification of a novel gene on chromosome 7q11.2 interrupted by a translocation breakpoint in a pair of autistic twins. Genomics 80:129-134.
30. Suzuki T, Iwata N, Kitamura Y, Kitajima T, Yamanouchi Y, Ikeda M, Nishiyama T, Kamatani N, Ozaki N. 2003. Association of a haplotype in the serotonin 5-HT4 receptor gene (HTR4) with Japanese schizophrenia. Am J Med Genet Part B 121B:7-13.
31. Szatmari P, Paterson AD, Zwaigenbaum L, Roberts W, Brian J, Liu XQ, Vincent JB, Skaug JL, Thompson AP, Senman L, Feuk L, Qian C, Bryson SE, Jones MB, Marshall CR, Scherer SW, Vieland VJ, Bartlett C, Mangin LV, Goedken R, Segre A, Pericak-Vance MA, Cuccaro ML, Gilbert JR, Wright HH, Abramson RK, Betancur C, Bourgeron T, Gillberg C, Leboyer M, Buxbaum JD, Davis KL, Hollander E, Silverman JM, Hallmayer J, Lotspeich L, Sutcliffe JS, Haines JL, Folstein SE, Piven J, Wassink TH, Sheffield V, Geschwind DH, Bucan M, Brown WT, Cantor RM, Constantino JN, Gilliam TC, Herbert M, Lajonchere C, Ledbetter DH, Lese-Martin C, Miller J, Nelson S, Samango-Sprouse CA, Spence S, State M, Tanzi RE, Coon H, Dawson G, Devlin B, Estes A, Flodman P, Klei L, McMahon WM, Minshew N, Munson J, Korvatska E, Rodier PM, Schellenberg GD, Smith M, Spence MA, Stodgell C, Tepper PG, Wijsman EM, Yu CE, Rogé B, Mantoulan C, Wittemeyer K, Poustka A, Felder B, Klauck SM, Schuster C, Poustka F, Bölte S, Feineis-Matthews S, Herbrecht E, Schmötzer G, Tsiantis J, Papanikolaou K, Maestrini E, Bacchelli E, Blasi F, Carone S, Toma C, Van Engeland H, de Jonge M, Kemner C, Koop F, Langemeijer M, Hijmans C, Staal WG, Baird G, Bolton PF, Rutter ML, Weisblatt E, Green J, Aldred C, Wilkinson JA, Pickles A, Le Couteur A, Berney T, McConachie H, Bailey AJ, Francis K, Honeyman G, Hutchinson A, Parr JR, Wallace S, Monaco AP, Barnby G, Kobayashi K, Lamb JA, Sousa I, Sykes N, Cook EH, Guter SJ, Leventhal BL, Salt J, Lord C, Corsello C, Hus V, Weeks DE, Volkmar F, Tauber M, Fombonne E, Shih A, Meyer KJ, Autism Genome Project Consortium. 2007. Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nat Genet 39:319-328.
32. Vincent JB, Herbrick J-A, Gurling HMD, Bolton PF, Roberts W, Scherer SW. 2000. Identification of a novel gene on chromosome 7q31 that is interrupted by a translocation breakpoint in an autistic individual. Am J Hum Genet 67:510-514.
33. Vincent JB, Horike S, Choufani S, Paterson AD, Roberts W, Szatmari P, Weksberg R, Fernandez B, Scherer SW. 2006. An inversion INV (4) (p12-p15.3) associated with autism implicates the 4p GABA receptor gene cluster. J Med Genet 43:429-434.
34. Zhao X, Li C, Paez JG, Chin K, Janne PA, Chen TH, Girard L, Minna J, Christiani D, Leo C, Gray JW, Sellers WR, Meyerson M. 2004. An integrated view of copy number and allelic alterations in the cancer genome using single nucleotide polymorphism arrays. Cancer Res 64:3060-3071.
35. Zhao X, Weir BA, LaFramboise T, Lin M, Beroukhim R, Garraway L, Beheshti J, Lee JC, Naoki K, Richards WG, Sugarbaker D, Chen F, Rubin MA, Janne PA, Girard L, Minna J, Christiani D, Li C, Sellers WR, Meyerson M. 2005. Homozygous deletions and chromosome amplifications in human lung carcinomas revealed by single nucleotide polymorphism array analysis. Cancer Res 65:5561-5570.