Genetic determinants of autism in individuals with deletions of 18q

Human Genetics

Volumn 128, Issue 2, 2010, Pages 155-164

  O'Donnell, Louise ^a   Soileau, Bridgette ^a   Heard, Patricia ^a   Carter, Erika ^a   Sebold, Courtney ^a   Gelfond, Jon ^a   Hale, Daniel E ^a   Cody, Jannine D ^a  

^a UNIVERSITY OF TEXAS HEALTH SCIENCE CENTER AT SAN ANTONIO   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTISM; CHROMOSOME 18; CHROMOSOME ARM; CHROMOSOME DELETION; CLINICAL ARTICLE; COPY NUMBER VARIATION; FEMALE; GENETIC IDENTIFICATION; GENOMICS; GILLIAM AUTISM RATING SCALE; HEMIZYGOSITY; HEREDITY; HUMAN; MALE; NEUROLOGIC EXAMINATION; PRIORITY JOURNAL; RATING SCALE; GENE; GENE DELETION; GENETICS; TELOMERE;

AUTISTIC DISORDER; CHROMOSOMES, HUMAN, PAIR 18; GENES; HUMANS; SEQUENCE DELETION; TELOMERE;

EID: 77955296061     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-010-0839-y     Document Type: Article

References (41)

1. J Amiel M Rio L de Pontual R Redon V Malan N Boddaert P Plouin NP Carter S Lyonnet A Munnich L Colleaux 2007 Mutations in TCF4, encoding a class 1 basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction Am J Hum Genet 80 5 988 993 10.1086/515582 1:CAS:528: DC%2BD2sXkvV2jsLk%3D 17436254
2. RE Amir IB Van den Veyver M Wan CQ Tran U Francke HY Zoghbi 1999 Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2 Nat Genet 23 2 185 188 10.1038/13810 1:CAS:528:DyaK1MXmtlOhtbo%3D 10508514
3. W Bi T Sapir OA Shchelochkov F Zhang MA Withers JV Hunter T Levy V Shinder DA Peiffer KL Gunderson MM Nezarati VA Shotts SS Amato SK Savage DJ Harris DL Day-Salvatore M Horner XY Lu T Sahoo Y Yanagawa AL Beaudet SW Cheung S Martinez JR Lupski O Reiner 2009 Increased LIS1 expression affects human and mouse brain development Nat Genet 41 168 177 10.1038/ng.302 1:CAS:528: DC%2BD1MXktVeisg%3D%3D 19136950
4. C Cardoso RJ Leventer HL Ward K Toyo-Oka J Chung A Gross CL Martin J Allanson DT Pilz AH Olney OM Mutchinick S Hirotsune A Wynshaw-Boris WB Dobyns DH Ledbetter 2003 Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3 Am J Hum Genet 72 4 918 930 10.1086/374320 1:CAS:528:DC%2BD3sXivFWgur8%3D 12621583
5. SL Christian CW Brune J Sudi RA Kumar S Liu S Karamohamed JA Badner S Matsui J Conroy D McQuaid J Gergel E Hatchwell TC Gilliam ES Gershon NJ Nowak WB Dobyns EH Cook Jr 2008 Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder Biol Psychiatry 63 12 1111 1117 10.1016/j.biopsych. 2008.01.009 1:CAS:528:DC%2BD1cXmsFOjt7g%3D 18374305
6. JD Cody JF Pierce Z Brkanac R Plaetke PD Ghidoni CI Kaye RJ Leach 1997 Preferential loss of the paternal alleles in the 18q-syndrome Am J Med Genet 69 3 280 286 10.1002/(SICI)1096-8628(19970331)69:3<280::AID-AJMG12>3.0.CO;2-N 1:STN:280:DyaK2s3ltFSktg%3D%3D 9096757
7. JD Cody C Sebold A Malik P Heard E Carter A Crandall B Soileau M Semrud-Clikeman CM Cody LJ Hardies J Li J Lancaster PT Fox RF Stratton B Perry DE Hale 2007 Recurrent interstitial deletions of proximal 18q: a new syndrome involving expressive speech delay Am J Med Genet 143A 11 1181 1190 10.1002/ajmg.a.31729 1:CAS:528:DC%2BD2sXntlOhsrc%3D 17486614
8. JD Cody PL Heard AC Crandall EM Carter J Li LJ Hardies J Lancaster B Perry RF Stratton C Sebold RL Schaub B Soileau A Hill M Hasi PT Fox DE Hale 2009 Narrowing critical regions and determining penetrance for selected 18q-phenotypes Am J Med Genet 149A 7 1421 1430 10.1002/ajmg.a.32899 1:CAS:528:DC%2BD1MXpsVejtr4%3D 19533771
9. A Flora JJ García C Thaller HY Zoghbi 2007 The E-protein Tcf4 interacts with Math1 to regulate differentiation of a specific subset of neuronal progenitors Proc Natl Acad Sci 104 39 15382 15387 10.1073/pnas. 0707456104 1:CAS:528:DC%2BD2sXhtFWrs77E 17878293
10. E Fombonne 2003 Epidemiological surveys of autism and other pervasive developmental disorders: an update J Autism Dev Disord 33 4 365 382 10.1023/A:1025054610557 12959416
11. Gilliam JE (1995) Gilliam autism rating scale. Pro-Ed Inc., Austin
12. Gilliam JE (2006) Gilliam autism rating scale-second edition. Pro-Ed Inc., Austin
13. K Gordon VM Siu F Sergovich J Jung 1993 18q-mosaicism associated with Rett syndrome phenotype Am J Med Gen 46 2 142 144 10.1002/ajmg.1320460208 1:STN:280:DyaK3s3kvV2htQ%3D%3D
14. A Gusev JK Lowe M Stoffel MJ Daly D Altshuler JL Breslow JM Friedman I Pe'er 2009 Whole population, genome-wide mapping of hidden relatedness Genome Res 19 2 318 326 10.1101/gr.081398.108 1:CAS:528:DC%2BD1MXhvVSisr4%3D 18971310
15. P Gustavsson E Kimber J Wahlström G Annerén 1999 Monosomy 18q syndrome and atypical Rett syndrome in a girl with an interstitial deletion (18)(q21.1q22.3) Am J Med Gen 82 4 348 351 10.1002/(SICI)1096-8628(19990212)82: 4<348::AID-AJMG14>3.0.CO;2-2 1:STN:280:DyaK1M7lvVCrsg%3D%3D
16. PL Heard EM Carter AC Crandall C Sebold DE Hale JD Cody 2009 High resolution analysis of 18q- using oligo-microarray comparative genomic hybridization Am J Med Genet 149A 7 1431 1437 10.1002/ajmg.a.32900 1:CAS:528:DC%2BD1MXpsVejtrw%3D 19533772
17. CI Kaye JD Cody RL Schaub, et al. 2002 Life and health outcomes in adults with deletions of chromosome 18 [abstract] Am J Hum Genet 71 suppl 70
18. JM Kidd GM Cooper WF Donahue HS Hayden N Sampas T Graves N Hansen B Teague C Alkan F Antonacci E Haugen T Zerr NA Yamada P Tsang TL Newman E Tüzün Z Cheng HM Ebling N Tusneem R David W Gillett KA Phelps M Weaver D Saranga A Brand W Tao E Gustafson K McKernan L Chen M Malig JD Smith JM Korn SA McCarroll DA Altshuler DA Peiffer M Dorschner J Stamatoyannopoulos D Schwartz DA Nickerson JC Mullikin RK Wilson L Bruhn MV Olson R Kaul DR Smith EE Eichler 2008 Mapping and sequencing of structural variation from eight human genomes Nature 453 7191 56 64 10.1038/nature06862 1:CAS:528:DC%2BD1cXltlansrg%3D 18451855
19. RA Kumar S KaraMohamed J Sudi DF Conrad C Brune JA Badner TC Gilliam NJ Nowak EH Cook Jr WB Dobyns SL Christian 2008 Recurrent 16p11.2 microdeletions in autism Hum Mol Genet 17 4 628 638 10.1093/hmg/ddm376 1:CAS:528: DC%2BD1cXhsVSnt7c%3D 18156158
20. S Li CM Tuck-Muller JE Martinez ER Rowley H Chen W Wertelecki 1998 Prenatal detection of de novo duplication of the short arm of chromosome 18 confirmed by fluorescence in situ hybridization (FISH) Am J Med Genet 80 5 487 490 10.1002/(SICI)1096-8628(19981228)80:5<487::AID-AJMG9>3.0.CO;2-Y 1:STN:280:DyaK1M%2FpsVyhsA%3D%3D 9880213
21. H Li T Yamagata M Mori A Yasuhara MY Momoi 2005 Mutation analysis of methyl-CpG binding protein family genes in autistic patients Brain Dev 27 5 321 325 10.1016/j.braindev.2004.08.003 1:CAS:528:DC%2BD2MXnsl2ksrw%3D 15967618
22. P Mabboux S Brisset A Aboura D Pineau V Koubi S Joannidis P Labrune G Tachdjian 2007 Pure and complete trisomy 18p due to a supernumerary marker chromosome associated with moderate mental retardation Am J Med Genet 143A 7 727 733 10.1002/ajmg.a.31633
23. H Marical MJ Le Bris N Douet-Guilbert P Parent JP Descourt F Morel M De Braekeleer 2007 18p trisomy: a case of direct 18p duplication characterized by molecular cytogenetic analysis Am J Med Genet 143A 18 2192 2195 10.1002/ajmg.a.31881 1:STN:280:DC%2BD2svpsVelsg%3D%3D 17676610
24. CR Marshall A Noor JB Vincent AC Lionel L Feuk J Skaug M Shago R Moessner D Pinto Y Ren B Thiruvahindrapduram A Fiebig S Schreiber J Friedman CE Ketelaars YJ Vos C Ficicioglu S Kirkpatrick R Nicolson L Sloman A Summers CA Gibbons A Teebi D Chitayat R Weksberg A Thompson C Vardy V Crosbie S Luscombe R Baatjes L Zwaigenbaum W Roberts B Fernandez P Szatmari SW Scherer 2008 Structural variation of chromosomes in autism spectrum disorder Am J Hum Genet 82 2 477 488 10.1016/j.ajhg.2007.12.009 1:CAS:528:DC%2BD1cXit1Sisrs%3D 18252227
25. U Moog JJ Engelen CE de Die-Smulders JC Albrechts WH Loneus AA Haagen EJ Raven AJ Hamers 1994 Partial trisomy of the short arm of chromosome 18 due to inversion duplication and direct duplication Clin Genet 46 6 423 429 1:STN:280:DyaK2M7ps1eksg%3D%3D 7889659
26. RP Nagarajan AR Hogart Y Gwye MR Martin JM LaSalle 2006 Reduced MECP2 expression is frequent in autism frontal cortex and correlates with aberrant MECPS promoter methylation Epigenetics 1 172 182 10.4161/epi.1.4.3514
27. D Ng GM Pitcher RK Szilard A Sertié M Kanisek SJ Clapcote T Lipina LV Kalia D Joo C McKerlie M Cortez JC Roder MW Salter RR McInnes 2009 Neto1 is a novel CUB-domain NMDA receptor-interacting protein required for synaptic plasticity and learning PLoS Biol 7 2 e41 10.1371/journal.pbio.1000041 19243221
28. J Nichols B Zevnik K Anastassiadis H Niwa D Klewe-Nebenius I Chambers H Schöler A Smith 1998 Formation of pluripotent stem cells in the mammalian embryo depends on the POU transcription factor Cell 95 3 379 391 10.1016/S0092-8674(00)81769-9 1:CAS:528:DyaK1cXntlCqt74%3D 9814708
29. GH Perry A Ben-Dor A Tsalenko N Sampas L Rodriguez-Revenga CW Tran A Scheffer I Steinfeld P Tsang NA Yamada HS Park JI Kim JS Seo Z Yakhini S Laderman L Bruhn C Lee 2008 The fine-scale and complex architecture of human copy-number variation Am J Hum Genet 82 3 685 695 10.1016/j.ajhg.2007.12.010 1:CAS:528:DC%2BD1cXksVGrtbk%3D 18304495
30. R Redon S Ishikawa KR Fitch L Feuk GH Perry TD Andrews H Fiegler MH Shapero AR Carson W Chen EK Cho S Dallaire JL Freeman JR González M Gratacòs J Huang D Kalaitzopoulos D Komura JR MacDonald CR Marshall R Mei L Montgomery K Nishimura K Okamura F Shen MJ Somerville J Tchinda A Valsesia C Woodwark F Yang J Zhang T Zerjal J Zhang L Armengol DF Conrad X Estivill C Tyler-Smith NP Carter H Aburatani C Lee KW Jones SW Scherer ME Hurles 2006 Global variation in copy number in the human genome Nature 444 7118 444 454 10.1038/nature05329 1:CAS:528:DC%2BD28Xht1aku7zI 17122850
31. L Rodríguez T Liehr K Mrasek E Mansilla ML Martínez- Fernández A Garcia ML Martínez-Frías 2007 Small supernumerary chromosome marker generating complete and pure trisomy 18p, characterized by molecular cytogenetic techniques and review Am J Med Genet 143A 22 2727 2732 10.1002/ajmg.a.32003 17937429
32. J Sebat B Lakshmi D Malhotra J Troge C Lese-Martin T Walsh B Yamrom S Yoon A Krasnitz J Kendall A Leotta D Pai R Zhang YH Lee J Hicks SJ Spence AT Lee K Puura T Lehtimäki D Ledbetter PK Gregersen J Bregman JS Sutcliffe V Jobanputra W Chung D Warburton MC King D Skuse DH Geschwind TC Gilliam K Ye M Wigler 2007 Strong association of de novo copy number mutations with autism Science 316 5823 445 449 10.1126/science.1138659 1:CAS:528:DC%2BD2sXktlSkuro%3D 17363630
33. M Semrud-Clikeman JD Cody CI Kaye RJ Leach 1999 Incidence of autism and attention deficit hyperactivity disorder (ADHD) in individuals with deletions of 18q [abstract] Am J Hum Genet 65 suppl 344
34. DA Stephan 2008 Unraveling autism Am J Hum Genet 82 1 7 9 10.1016/j.ajhg.2007.12.003 1:CAS:528:DC%2BD1cXhsFOksrk%3D 18179879
35. K Takeda T Okamura T Hasegawa 1989 Sibs with tetrasomy 18p born to a mother with trisomy 18p J Med Genet 26 3 195 197 10.1136/jmg.26.3.195 1:STN:280:DyaL1M3hs1ymsg%3D%3D 2651671
36. KM Taylor HL Wolfinger MG Brown DL Chadwick 1975 Origin of a small metacentric chromosome: familial and cytogenic evidence Clin Genet 8 5 364 369 1:STN:280:DyaE28%2FptVyntA%3D%3D 1204233
37. Y Tokuzawa E Kaiho M Maruyama K Takahashi K Mitsui M Maeda H Niwa S Yamanaka 2003 Fbx15 is a novel target of Oct3/4 but is dispensable for embryonic stem cell self-renewal and mouse development Mol Cell Biol 23 8 2699 2708 10.1128/MCB.23.8.2699-2708.2003 1:CAS:528:DC%2BD3sXktV2lsbg%3D 12665572
38. LA Weiss Y Shen JM Korn DE Arking DT Miller R Fossdal E Saemundsen H Stefansson MA Ferreira T Green OS Platt DM Ruderfer CA Walsh D Altshuler A Chakravarti RE Tanzi K Stefansson SL Santangelo JF Gusella P Sklar BL Wu MJ Daly Autism Consortium 2008 Association between microdeletion and microduplication at 16p11.2 and autism N Engl J Med 358 7 667 675 10.1056/NEJMoa075974 1:CAS:528:DC%2BD1cXhvVeitbY%3D 18184952
39. DJ Wolff LJ Raffel MM Ferré S Schwartz 1991 Prenatal ascertainment of an inherited dup(18p) associated with an apparently normal phenotype Am J Med Genet 41 3 319 321 10.1002/ajmg.1320410311 1:STN:280:DyaK387mtVyjtQ%3D%3D 1789286
40. M Yeargin-Allsopp C Rice T Karapurkar N Doernberg C Boyle C Murphy 2003 Prevalence of autism in a US metropolitan area JAMA 289 1 49 55 10.1001/jama.289.1.49 12503976
41. C Zweier MM Peippo J Hoyer S Sousa A Bottani J Clayton-Smith W Reardon J Saraiva A Cabral I Gohring K Devriendt T de Ravel EK Bijlsma RC Hennekam A Orrico M Cohen A Dreweke A Reis P Nurnberg A Rauch 2007 Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins Syndrome) Am J Hum Genet 80 5 994 1001 10.1086/515583 1:CAS:528:DC%2BD2sXkvV2jsLY%3D 17436255