Candidate gene study of HOXB1 in autism spectrum disorder

Molecular Autism

Volumn 1, Issue 1, 2010, Pages

  Muscarella, Lucia A ^a   Guarnieri, Vito ^a   Sacco, Roberto ^b,c   Curatolo, Paolo ^d   Manzi, Barbara ^d   Alessandrelli, Riccardo ^d   Giana, Grazia ^d   Militerni, Roberto ^e   Bravaccio, Carmela ^e   Lenti, Carlo ^f   Saccani, Monica ^f   Schneider, Cindy ^g   Melmed, Raun ^h   D'Agruma, Leonardo ^a,h   Persico, Antonio M ^b,c  

^a CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^b UNIVERSITY CAMPUS BIO MEDICO   (Italy)

^c IRCCS FONDAZIONE SANTA LUCIA   (Italy)

^d UNIVERSITY OF ROME TOR VERGATA   (Italy)

^e UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^f UNIVERSITY OF MILAN   (Italy)

^g Center for Autism Research and Education   (United States)

^h Southwest Autism Research and Resource Center   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ALLELE; ARTICLE; ASPERGER SYNDROME; AUTISM; CASE CONTROL STUDY; CONTROLLED STUDY; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; DIAGNOSTIC AND STATISTICAL MANUAL OF MENTAL DISORDERS; DNA SEQUENCE; EUROPEAN AMERICAN; EXON; FEMALE; GENE; GENE EXPRESSION; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE; HOMEOBOX 1 GENE; HUMAN; ITALY; MAJOR CLINICAL STUDY; MALE; PERVASIVE DEVELOPMENTAL DISORDER NOT OTHERWISE SPECIFIED; PHYLOGENY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RACE DIFFERENCE; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 77956385083     PISSN: None     EISSN: 20402392     Source Type: Journal    
DOI: 10.1186/2040-2392-1-9     Document Type: Article

References (46)

1. Autism as a strongly genetic disorder: evidence from a British twin study. Bailey A Le Couteur A Gottesman I Bolton P, Simonoff E Yuzda E, Rutter M, Psychol Med 1995 25 63 78 10.1017/S0033291700028099 7792363
2. Latent-class analysis of recurrence risks for complex phenotypes with selection and measurement error: a twin and family history study of autism. Pickles A Bolton P MacDonald H Bailey A, Le Couteur A Sim CH, Rutter M, Am J Hum Genet 1995 57 717 726 7668301
3. Searching for ways out of the autism maze: genetic, epigenetic and environmental clues. Persico AM Bourgeron T, Trends Neurosci 2006 29 349 358 10.1016/j.tins.2006.05.010 16808981
4. Multiple rare variants in the etiology of autism spectrum disorders. Buxbaum JD, Dialogues Clin Neurosci 2009 11 35 43 19432386
5. Autistic phenotypes and genetic testing: state-of-the-art for the clinical geneticist. Lintas C Persico AM, J Med Genet, J Med Genet 2009 46 1 8
6. A clinicopathological study of autism. Bailey A Luthert P, Dean A Harding B, Janota I Montgomery M, Rutter M Lantos P, Brain 1998 121 889 905 10.1093/brain/121.5.889 9619192
7. Neuroanatomic observations of the brain in autism: a review and future directions. Bauman ML Kemper TL, Int J Dev Neurosci 2005 23 183 187 10.1016/j.ijdevneu.2004.09.006 15749244
8. Eshkol-Wachman movement notation in diagnosis: the early detection of Asperger's syndrome. Teitelbaum O Benton T, Shah PK Prince A, Kelly JL Teitelbaum P, Proc Natl Acad Sci USA 2004 101 11909 11914 10.1073/pnas. 0403919101 15282371
9. Autism associated with conditions characterized by developmental errors in early embryogenesis: a mini review. Miller MT Stromland K, Ventura L Johansson M, Bandim JM Gillberg C, Int J Dev Neurosci 2005 23 201 219 10.1016/j.ijdevneu.2004.06.007 15749246
10. Mice with targeted disruption of Hoxb-1 fail to form the motor nucleus of the VIIth nerve. Goddard JM Rossel M, Manley NR Capecchi MR, Development 1996 122 3217 3228 8898234
11. Altered segmental identity and abnormal migration of motor neurons in mice lacking Hoxb-1. Studer M Lumsden A Ariza-McNaughton L Bradley A, Krumlauf R, Nature 1996 384 630 634 10.1038/384630a0 8967950
12. Embryological origin for autism: developmental anomalies of the cranial nerve motor nuclei. Rodier PM Ingram JL Tisdale B Nelson S, Romano J, J Comp Neurol 1996 370 247 261 10.1002/(SICI)1096-9861(19960624)370:2<247::AID- CNE8>3.0.CO;2-2 8808733
13. Brainstem, cerebellar and limbic neuroanatomical abnormalities in autism. Courchesne E, Curr Opin Neurobiol 1997 7 269 278 10.1016/S0959-4388(97)80016-5 9142760
14. Genetic interactions between Hoxa1 and Hoxb1 reveal new roles in regulation of early hindbrain patterning. Studer M Gavalas A Marshall H Ariza-McNaughton L, Rijli FM Chambon P, Krumlauf R, Development 1998 125 1025 1036 9463349
15. Hoxa1 and Hoxb1 synergize in patterning the hindbrain, cranial nerves and second pharyngeal arch. Gavalas A Studer M, Lumsden A Rijli FM, Krumlauf R Chambon P, Development 1998 125 1123 1136 9463359
16. Mice mutant for both Hoxa1 and Hoxb1 show extensive remodeling of the hindbrain and defects in craniofacial development. Rossell M Capecchi MR, Development 1999 126 5027 5040 10529420
17. Discovery of allelic variants of HOXA1 and HOXB1: genetic susceptibility to autism spectrum disorders. Ingram JL Stodgell CJ, Hyman SL Figlewicz DA, Weitkamp LR Rodier PM, Teratology 2000 62 393 405 10.1002/1096-9926(200012)62: 6<393::AID-TERA6>3.0.CO;2-V 11091361
18. Association between the HOXA1 A218G polymorphism and increased head circumference in patients with autism. Conciatori M Stodgell CJ, Hyman SL O'Bara M, Militerni R Bravaccio C, Trillo S Montecchi F, Schneider C Melmed R, Elia M Crawford L, Spence SJ Muscarella L, Guarnieri V D'Agruma L, Quattrone A Zelante L, Rabinowitz D Pascucci T, Puglisi-Allegra S Reichelt KL, Rodier PM Persico AM, Biol Psychiatry 2004 55 413 419 10.1016/j.biopsych.2003.10.005 14960295
19. HOXA1 gene variants influence head growth rates in humans. Muscarella LA Guarnieri V, Sacco R Militerni R, Bravaccio C Trillo S, Schneider C Melmed R, Elia M Mascia ML, Rucci E Piemontese MR, D'Agruma L Persico AM, Am J Med Genet (Neuropsychiatric Genet) 2007 144 388 390 10.1002/ajmg.b.30469
20. Head circumference in autism and other pervasive developmental disorders. Woodhouse W Bailey A, Rutter M Bolton P, Baird G Le Couteur A, J Child Psychol Psychiat 1996 37 665 671 10.1111/j.1469-7610.1996.tb01458.x 8894947
21. Clinical, morphological, and biochemical correlates of head circumference in autism. Sacco R Militerni R Frolli A Bravaccio C, Gritti A Elia M, Curatolo P Manzi B, Trillo S Lenti C, Saccani M Schneider C, Melmed R Reichelt KL, Pascucci T Puglisi-Allegra S, Persico AM, Biol Psychiatry 2007 62 1038 1047 10.1016/j.biopsych.2007.04.039 17644070
22. Lack of association between HoxA1 and HoxB1 gene variants and autism in 110 multiplex families. Li J Tabor HK, Nguyen L Gleason C, Lotspeich LJ Spiker D, Risch N Myers RM, Am J Med Genet (Neuropsychiat Genet) 2002 114 24 30 10.1002/ajmg.1618
23. No association between HOXA1 and HOXB1 genes and autism spectrum disorders (ASD). Talebizadeh Z Bittel DC Miles JH Takahashi N, Wang CH Kibiryeva N, Butler MG, J Med Genet 2002 39 70 10.1136/jmg.39.11.e70 12414832
24. Lack of association of HOXA1 and HOXB1 mutations and autism in Sicilian (Italian) patients. Romano V Cal F Mirisola M Gambino G, D'Anna R Di Rosa P, Seidita G Chiavetta V, Aiello F Canziani F, De Leo G Ayala GF, Elia M, Mol Psychiatry 2003 8 716 717 10.1038/sj.mp.4001285 12888798
25. No association between allelic variants of HOXA1/HOXB1 and autism. Gallagher L Hawi Z Kearney G Fitzgerald M, Gill M, Am J Med Genet B Neuropsychiatr Genet 2004 124B 64 67 10.1002/ajmg.b.20094 14681917
26. Lack of association of HOXA1 and HOXB1 variants with autism in the Indian population. Sen B Sinha S, Ahmed S Ghosh S, Gangopadhyay PK Usha R, Psychiatr Genet 2007 17 1 10.1097/YPG.0b013e328010de0d 17167333
27. Diagnostic and Statistical Manual of Mental Disorders. American Psychiatric Association, Washington DC: American Psychiatric Association 4 1994
28. Lord C, Rutter M, DiLavore PC, Risi S: ADOS, Autism Diagnostic Observation Schedule. Edited by: Tancredi R, Saccani M, Persico AM, Parrini B, Igliozzi R, Faggioli R. Los Angeles: Western Psychological Services; 2002. (Italian version, Firenze: Organizzazioni Speciali; 2005)
29. Rutter M, Le Couter A, Lord C: ADI-R, Autism Diagnostic Interview - Revised. Edited by: Faggioli R, Saccani M, Persico AM, Tancredi R, Parrini B, Igliozzi R. Los Angeles: Western Psychological Services; 2003. (Italian version, Firenze: Organizzazioni Speciali, 2005)
30. Statistical Genetics Utility programs. http://linkage.rockefeller.edu/ ott/util.htm
31. The TDT and other family-based tests for linkage disequilibrium and association. Spielman RS Ewens WJ, Am J Hum Genet 1996 59 983 989 8900224
32. UNPHASED software. http://portal.litbio.org/Registered/Option/unphased. html
33. Inference of population structure using multilocus genotype data. Pritchard JK Stephens M Donnelly P, Genetics 2000 155 945 959 10835412
34. PBAT. http://www.biostat.harvard.edu/∼clange/default.htm
35. ClustalW2. http://www.ebi.ac.uk/Tools/clustalw2/index.html
36. VISTA. http://genome.lbl.gov/vista/index.shtml
37. Wayne WD: Applied Nonparametric Statistics. 2nd edition. Boston: PWS-KENT; 1990:82-143.
38. Isolation of principal components in autistic disorder symptomatology and their association with biological endophenotypes [abstract]. Persico AM Sacco R Curatolo P Manzi B, Lenti C Saccani M, Militerni R Bravaccio C, Elia M, Program No. 446.20, Neuroscience Meeting Planner Washington, DC: Society for Neuroscience 2008 http://www.sfn.org
39. A genetic polymorphism in the human HOXB1 homeobox gene implying a 9bp tandem repeat in the amino-terminal coding region. Mutations in brief no. 200. Online. Faiella A Zortea M Barbaria E Albani F, Capra V Cama A, Boncinelli E, Hum Mutat 1998 12 363 10671062
40. The pathophysiology of HOX genes and their role in cancer. Grier DG Thompson A, Kwasniewska A McGonigle GJ, Halliday HL Lappin TR, J Pathol 2005 205 154 171 10.1002/path.1710 15643670
41. Homeobox gene expression and mutation in cervical carcinoma cells. Hung YC Ueda M Terai Y Kumagai K, Ueki K Kanda K, Yamaguchi H Akise D, Ueki M, Cancer Sci 2003 94 437 441 10.1111/j.1349-7006.2003.tb01461.x 12824890
42. Global variation in copy number in the human genome. Redon R Ishikawa S, Fitch KR Feuk L, Perry GH Andrews TD, Fiegler H Shapero MH, Carson AR Chen W, et al. Nature 2006 444 444 454 10.1038/nature05329 17122850
43. Multiple rare variants in the etiology of autism spectrum disorders. Buxbaum JD, Dialogues Clin Neurosci 2009 11 35 43 19432386
44. Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders. Jacquemont ML Sanlaville D, Redon R Raoul O, Cormier-Daire V Lyonnet S, Amiel J Le Merrer M, Heron D de Blois MC, Prieur M Vekemans M, Carter NP Munnich A, Colleaux L Philippe A, J Med Genet 2006 43 843 849 10.1136/jmg.2006.043166 16840569
45. Strong association of de novo copy number mutations with autism. Sebat J Lakshmi B, Malhotra D Troge J, Martin C Lese-Walsh T, Yamrom B Yoon S, Krasnitz A Kendall J, et al. Science 2007 316 445 449 10.1126/science.1138659 17363630
46. Autism genome-wide copy number variation reveals ubiquitin and neuronal genes. Glessner JT Wang K, Cai G Korvatska O, Kim CE Wood S, Zhang H Estes A, Brune CW Bradfield JP, et al. Nature 2009 459 569 573 10.1038/nature07953 19404257