Association between the HOXA1 A218G polymorphism and increased head circumference in patients with autism

Biological Psychiatry

Volumn 55, Issue 4, 2004, Pages 413-419

  Conciatori, Monica ^a   Stodgell, Christopher J ^b   Hyman, Susan L ^b   O'Bara, Melanie ^b   Militerni, Roberto ⁿ   Bravaccio, Carmela ^c   Trillo, Simona ^d   Montecchi, Francesco ^d   Schneider, Cindy ^e   Melmed, Raun ⁿ   Elia, Maurizio ^f   Crawford, Lori ^g,h   Spence, Sarah J ^g,i   Muscarella, Lucianna ^j   Guarnieri, Vito ^j   D'Agruma, Leonardo ^j   Quattrone, Alessandro ^j   Zelante, Leopoldo ^j   Rabinowitz, Daniel ^k   Pascucci, Tiziana ^l   Puglisi Allegra, Stefano ^l   Reichelt, Karl Ludvig ^m   Rodier, Patricia M ^b   Persico, Antonio M ^a   more..

^a UNIVERSITY CAMPUS BIO MEDICO   (Italy)

^b UNIVERSITY OF ROCHESTER SCHOOL OF MEDICINE AND DENTISTRY   (United States)

^c UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^d BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

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

^f Neurology Service   (Italy)

^g UNIVERSITY OF CALIFORNIA   (United States)

^h Autism Genetic Resource Exchange   (United States)

ⁱ Laboratory of Medical Genetics   (Italy)

^j CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^k Och Spine at New York Presbyterian Hospitals   (United States)

^l SAPIENZA UNIVERSITY OF ROME   (Italy)

^m UNIVERSITY OF OSLO   (Norway)

ⁿ NONE

more..

Author keywords

Autistic disorder; Cranial circumference; Homeobox; Macrocephaly; Megalencephaly; Pervasive developmental disorders

Indexed keywords

ADULT; AGED; ALLELE; ARTICLE; AUTISM; BRAIN STEM; CASE CONTROL STUDY; COMPARATIVE STUDY; DISEASE ASSOCIATION; DNA POLYMORPHISM; DNA SEQUENCE; FEMALE; GENE MUTATION; GENETIC LINKAGE; GENETIC VARIABILITY; GENOTYPE; HEAD CIRCUMFERENCE; HOX A1 GENE; HOX GENE; HUMAN; MAJOR CLINICAL STUDY; MALE; MORPHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; STATISTICAL ANALYSIS;

EID: 10744221938     PISSN: 00063223     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.biopsych.2003.10.005     Document Type: Article

References (58)

1. Diagnostic and Statistical Manual of Mental Disorders. 4th ed. 1994;American Psychiatric Press, Washington, DC.
2. Bailey A., Le Couteur A., Gottesman I., Bolton P., Simonoff E., Yuzda E., et al. Autism as a strongly genetic disorder Evidence from a British twin study . Psychol Med. 25:1995;63-78.
3. Bailey A., Luthert P., Dean A., Harding B., Janota I., Montgomery M., et al. A clinicopathological study of autism. Brain. 121:1998;889-905.
4. Barrow J.R., Capecchi M.R. Compensatory defects associated with mutations in Hoxa1 restore normal palatogenesis to Hoxa2 mutants. Development. 126:1999;5011-5026.
5. Bauman M.L. Microscopic neuroanatomic abnormalities in autism. Pediatrics. 87:1991;791-796.
6. Carpenter E.M., Goddard J.M., Chisaka O., Manley N.R., Capecchi M.R. Loss of Hox-A1 (Hox-1.6) function results in the reorganization of the murine hindbrain. Development. 118:1993;1063-1075.
7. Chen C.J., Yu M.W., Wang C.J., Tong S.L., Tien M., Lee T.Y., et al. Chronological changes in genetic variance and heritability of anthropomometric characteristics among Chinese twin infants. Acta Genet Med Gemellol (Roma). 39:1990;479-484.
8. Chisaka O., Musci T.S., Capecchi M.R. Developmental defects of the ear, cranial nerves, and hindbrain resulting from targeted disruption of the mouse homeobox gene Hox-1.6. Nature. 355:1992;516-520.
9. Collins J.S., Schroer R.J., Bird J., Michalis R.C. The HoxA1 A218G polymorphism and autism Lack of association in white and black patients from the South Carolina Autism Project . J Autism Dev Disord. 33:2003;343-348.
10. Courchesne E. Brainstem, cerebellar and limbic neuroanatomical abnormalities in autism. Curr Opin Neurobiol. 7:1997;269-278.
11. Courchesne E., Karns C.M., Davis H.R., Ziccardi R., Carper R.A., Tigue Z.D., et al. Unusual brain growth patterns in early life in patients with autistic disorder An MRI study . Neurology. 57:2001;245-254.
12. Creuzet S., Couly G., Vincent C., Le Douarin N.M. Negative effect of Hox gene expression on the development of the neural crest-derived facial skeleton. Development. 129:2002;4301-4313.
13. Daniel W.W. Applied Nonparametric Statistics, 2nd ed. 1990;PWS-KENT Publishing Company, Boston, MA.
14. Del Toro E.D., Borday V., Davenne M., Neun R., Rijli F.M., Champagnat J. Generation of a novel functional neuronal circuit in Hoxa1 mutant mice. J Neurosci. 21:2001;5637-5642. 107-111.
15. Deutsch C.K., Joseph R.M. Brief report Cognitive correlates of enlarged head circumference in children with autism . J Autism Dev Disord. 33:2003;209-215.
16. Devlin B., Bennett P., Cook E.H. Jr, Dawson G., Gonen G., Grigorenko E.L., et al. No evidence for linkage of liability to autism to HOXA1 in a sample from the CPEA network. Am J Med Genet. 114:2002;667-672.
17. Fatemi S.H., Stary J.M., Halt A.R., Realmuto G.R. Dysregulation of Reelin and Bcl-2 proteins in autistic cerebellum. J Autism Dev Disord. 31:2001;529-535.
18. Fidler D.J., Bailey J.N., Smalley S.L. Macrocephaly in autism and other pervasive developmental disorders. Dev Med Child Neurol. 42:2000;737-740.
19. Folstein S.E., Rosen-Sheidley B. Genetics of autism Complex aetiology for a heterogeneous disorder . Nat Rev Genet. 2:2001;943-955.
20. Fombonne E., Rogé B., Claverie J., Courty S., Frémolle J. Microcephaly and macrocephaly in autism. J Autism Dev Disord. 29:1999;113-119.
21. Gavalas A., Studer M., Lumsden A., Rijli F.M., Krumlauf R., Chambon P. Hoxa1 and Hoxb1 synergize in patterning the hindbrain, cranial nerves and second pharyngeal arch. Development. 125:1998;1123-1136.
22. Geschwind D.H., Sowinski J., Lord C., Iversen P., Shestack J., Jones P., et al. The autism genetic resource exchange A resource for the study of autism and related neuropsychiatric conditions . Am J Hum Genet. 69:2001;463-466.
23. Ghaziuddin M., Zaccagnini J., Tsai L., Elardo S. Is megalencephaly specific to autism? J Intellect Disabil Res. 43:1999;279-282.
24. Griffiths R. Griffiths Mental Developmental Scales. 1992;The Test Agency, Oxon, UK.
25. Gutknecht L. Full-genome scans with autistic disorder A review . Behav Genet. 31:2001;113-123.
26. Hamill P.V.V., Drizd T.A., Johnson C.L., Reed R.B., Roche A.F., Moore W.M. Physical growth National Center for Health Statistics percentiles . Am J Clin Nutr. 32:1979;607-629.
27. Herbert M.R., Ziegler D.A., Deutsch C.K., O'Brien L.M., Lange N., Bakardjiev A., et al. Dissociation of cerebral cortex, subcortical and cerebral white matter volumes in autistic boys. Brain. 126:2003;1182-1192.
28. Hunt P., Whiting J., Nonchev S., Sham M., Marshall H., Graham A., et al. The branchial Hox code and its implications for gene regulation, patterning of the nervous system and head evolution. Development. 2:(suppl):1991;63-77.
29. Ijichi S., Ijichi N. Minor form of trigonocephaly is an autistic skull shape? A suggestion based on homeobox gene variants and MECP2 mutations. Med Hypotheses. 58:2002;337-339.
30. Ingram J.L., Peckhan S.M., Tisdale B., Rodier P.M. Prenatal exposure of rats to valproic acid reproduces the cerebellar anomalies associated with autism. Neurotoxicol Teratol. 22:2000;319-324.
31. Ingram J.L., Stodgell C.J., Hyman S.L., Figlewicz D.A., Weitkamp L.R., Rodier P.M. Discovery of allelic variants of HOXA1 and HOXB1 Genetic susceptibility to autism spectrum disorders . Teratology. 62:2000;393-405.
32. Keller F., Persico A.M. The neurobiological context of autism. Mol Neurobiol. 28:2003;1-22.
33. Krug D.A., Arick J.R., Almond P.J. Behavior checklist for identifying severely handicapped individuals with high levels of autistic behavior. J Child Psychol Psychiatry. 21:1980;221-229.
34. Lainhart J.E., Piven J., Wzorek M., Landa R., Santangelo S.L., Coon H., et al. Macrocephaly in children and adults with autism. J Am Acad Child Adolesc Psychiatry. 36:1997;282-290.
35. Leiter R.G. Leiter International Performance Scale. 1948;Stoelting Corp, Chicago, IL.
36. Li J., Tabor H.K., Nguyen L., Gleason C., Lotspeich L.J., Spiker D., et al. Lack of association between HoxA1 and HoxB1 gene variants and autism in 110 multiplex families. Am J Med Genet. 114:2002;24-30.
37. Lord C., Rutter M., DiLavore P.C. Autistic Observation Schedule-Generic (ADOS-G). 1999;Psychological Corp, San Antonio, TX.
38. Lord C., Rutter M., Le Couteur A. Autism Diagnostic Interview Revised A revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders . J Autism Dev Disord. 24:1994;659-685.
39. Maestrini E., Paul A., Monaco A.P., Bailey A. Identifying autism susceptibility genes. Neuron. 28:2000;19-24.
40. Mark M., Lufkin T., Vonesch J.-L., Ruberte E., Olivo J.-C., Dollé P., et al. Two rhombomeres are altered in Hoxa-1 mutant mice. Development. 119:1993;319-338.
41. Miles J.H., Hadden L.L., Takahashi T.N., Hillman R.E. Head circumference is an independent clinical finding associated with autism. Am J Med Genet. 95:2000;339-350.
42. National Center for Biotechnical Information. OMIM Online Mendelian Inheritance in Man. MIM 209850. Available at: http://www.ncbi.nlm.nih.gov/Omim/ Accessed on August 15, 2003.
43. Nelson K.B., Grether J.K., Croen L.A., Dambrosia J.M., Dickens B.F., Jelliffe L.L., et al. Neuropeptides and neurotrophins in neonatal blood of children with autism or mental retardation. Ann Neurol. 49:2001;597-606.
44. O'Donovan M.C., Oefner P.J., Roberts S.C., Austin J., Hoogendoorn B., Guy C., et al. Blind analysis of denaturing high-performance liquid chromatography as a tool for mutation detection. Genomics. 52:1998;44-49.
45. Ott. HWE Program. 2003;. Available at: http://linkage.rockfeller.edu/ott/ linkutil.htm Accessed on July 2, 2003.
46. Persico A.M., D'Agruma L., Maiorano N., Totaro A., Militerni R., Bravaccio C., et al. Reelin gene alleles and haplotypes as a factor predisposing to autistic disorder. Mol Psychiatry. 6:2001;150-159.
47. Pickles A., Bolton P., MacDonald H., Bailey A., Le Couteur A., Sim C.H., et al. Latent-class analysis of recurrence risks for complex phenotypes withselection and measurement error A twin and family history study of autism . Am J Hum Genet. 57:1995;717-726.
48. Piven J., Arndt S., Bailey J., Andreasen N. Regional brain enlargement in autism A magnetic resonance imaging study . J Am Acad Child Adolesc Psychiatry. 35:1996;530-536.
49. Rodier P.M., Ingram J.L., Tisdale B., Nelson S., Romano J. Embryological origin for autism Developmental anomalies of the cranial nerve motor nuclei . J Comp Neurol. 370:1996;247-261.
50. Romano V., Calì F., Mirisola M., Gambino G., Anna R.D., Di Rosa P., et al. Lack of association of HOXA1 and HOXB1 mutations and autism in Sicilian (Italian) patients. Mol Psychiatry. 8:2003;716-717.
51. Rossell M., Capecchi M.R. Mice mutant for both Hoxa1 and Hoxb1 show extensive remodeling of the hindbrain and defects in craniofacial development. Development. 126:1999;5027-5040.
52. Schopler E., Reichler R.J., Rochen Renner B.R. The Childhood Autism Rating Scale for Diagnostic Screening and Classification of Autism. 1986;Irvington, New York.
53. Sparrow S.S., Balla D.A., Cicchetti D.V. Vineland Adaptive Behavior Scales - Survey Form. 1984;American Guidance Service Inc, Circle Pines, MN.
54. Spielman R.S., McGinnis R.E., Ewens W.J. Transmission test for linkage disequilibrium The insulin gene region and insulin-dependent diabetes mellitus (IDDM) . Am J Hum Genet. 52:1993;506-516.
55. Stevenson R.E., Schroer R.J., Skinner C., Fender D., Simensen R.J. Autism and macrocephaly. Lancet. 349:1997;1744-1745.
56. Talebizadeh Z., Bittel D.C., Miles J.H., Takahashi N., Wang C.H., Kibiryeva N., et al. No association between HOXA1 and HOXB1 genes and autism spectrum disorders (ASD). J Med Genet. 39:2002;E70.
57. Teitelbaum P., Teitelbaum O., Nye J., Fryman J., Maurer R. Movement analysis in infancy may be useful for early diagnosis of autism. Proc Natl Acad Sci U S A. 95:1998;13982-13987.
58. Woodhouse W., Bailey A., Rutter M., Bolton P., Baird G., Le Couteur A. Head circumference in autism and other pervasive developmental disorders. J Child Psychol Psychiatry. 37:1996;665-671.