Lack of association between HoxA1 and HoxB1 gene variants and autism in 110 multiplex families

American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics

Volumn 114, Issue 1, 2002, Pages 24-30

  Jun, Li ^a   Tabor, Holly K ^a   Nguyen, Loan ^a   Gleason, Christopher ^a   Lotspeich, Linda J ^a   Spiker, Donna ^a   Risch, Neil ^a   Myers, Richard M ^a  

^a STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Autism; Hox A1 and Hox B1; Lack of association

Indexed keywords

HOMEOBOX A1 PROTEIN; HOMEODOMAIN PROTEIN; HOXB1 HOMEODOMAIN PROTEIN; TRANSCRIPTION FACTOR;

AUTISTIC DISORDER; ETIOLOGY; EXON; FEMALE; GENETIC PREDISPOSITION; GENETIC VARIABILITY; GENETICS; HUMAN; MALE; MOLECULAR GENETICS; POLYMERASE CHAIN REACTION;

AUTISTIC DISORDER; ETIOLOGY; EXONS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC VARIATION; GENETICS; HOMEODOMAIN PROTEINS; HUMANS; MALE; MOLECULAR SEQUENCE DATA; POLYMERASE CHAIN REACTION; TRANSCRIPTION FACTORS;

EID: 70350545899     PISSN: 15524841     EISSN: 1552485X     Source Type: Journal    
DOI: 10.1002/ajmg.1618     Document Type: Article

References (44)

1. Bailey A, Le Couteur A, Gottesman I, Bolton P, Simonoff E, Yuzda E, Rutter M. 1995. Autism as a strongly genetic disorder: evidence from a British twin study. Psychol Med 25:63-77.
2. Bailey A, Luthert P, Dean A, Harding B, Janota I, Montgomery M, Rutter M, Lantos P. 1998. A clinicopathological study of autism. Brain 121:889-905.
3. Beasley A, Myers RM, Cox DR, Lazzeroni LC. 1999. Statistical refinement of primer design parameters. In: Innis MA, Gelfand DH, Sninsky JJ, editors. PCR applications. New York: Academic Press. p 55-72.
4. Bolton P, Macdonald H, Pickles A, Rios P, Goode S, Crowson M, Bailey A, Rutter M. 1994. A case-control family history study of autism. J Child Psychol Psychiatry 35:877-900. (Pubitemid 24213267)
5. Carpenter EM, Goddard JM, Chisaka O, Manley NR, Capecchi MR. 1993. Loss of Hox-A1 (Hox-1.6) function results in the reorganization of the murine hindbrain. Development 118:1063-1075. (Pubitemid 23252397)
6. Collaborative linkage study of autism (CLSA). 1999. An autosomal genomic screen for autism. Am J Med Genet (Neuropsychiatr Genet) 88:609-615.
7. Comings DE, Wu S, Chiu C, Muhleman D, Sverd J. 1996. Studies of the c-Harvey-Ras gene in psychiatric disorders. Psychiatry Res 63:25-32. (Pubitemid 26228645)
8. Cook EH Jr, Courchesne R, Lord C, Cox NJ, Yan S, Lincoln A, Haas R, Courchesne E, Leventhal BL. 1997. Evidence of linkage between the serotonin transporter and autistic disorder. Mol Psychiatry 2:247-250. (Pubitemid 27217689)
9. Cook EH Jr, Courchesne RY, Cox NJ, Lord C, Gonen D, Guter SJ, Lincoln A, Nix K, Haas R, Leventhal BL, et al., 1998. Linkage-disequilibrium mapping of autistic disorder, with 15q11-13 markers. Am J Hum Genet 62:1077-1083. (Pubitemid 28199008)
10. Courchesne E. 1997. Brainstem, cerebellar and limbic neuroanatomical abnormalities in autism. Curr Opin Neurobiol 7:269-278. (Pubitemid 27219864)
11. Ewing B, Green P. 1998. Base-calling of automated sequencer traces using phred. II. error probabilities. Genome Res 8:186-194.
12. Ewing B, Hillier L, Wendl MC, Green P. 1998. Base-calling of automated sequencer traces using phred. I. accuracy assessment. Genome Res 8:175-185.
13. Feinstein C, Reiss AL. 1998. Autism: the point of view from fragile X studies. J Autism Dev Disord 28:393-405. (Pubitemid 29101855)
14. Gavalas A, Studer M, Lumsden A, Rijli FM, Krumlauf R and Chambon P. 1998. Hoxa1 and Hoxb1 synergize in patterning the hindbrain, cranial nerves and second pharyngeal arch. Development 125:1123-1136. (Pubitemid 28171207)
15. Gordon D, Abajian C, Green P. 1998. Consed: a graphical tool for sequence finishing. Genome Res 8:195-202. (Pubitemid 28177231)
16. Herault J, Petit E, Martineau J, Perrot A, Lenoir P, Cherpi C, Barthelemy C, Sauvage D, Mallet J, Muh JP. 1995. Autism and genetics: clinical approach and association study with two markers of HRAS gene. Am J Med Genet 60:276-281.
17. Ingram JL, Stodgell CJ, Hyman SL, Figlewicz DA, Weitkamp LR, Rodier PM. 2000. Discovery of allelic variants of HOXA1 and HOXB1: Genetic susceptibility to autism spectrum disorders. Teratology 62:393-405.
18. International Molecular Genetic Study of Autism Consortium (IMGSAC). 1998. A full genome screen for autism with evidence for linkage to a region on chromosome 7q. Hum Mol Genet 7:571-578.
19. Jorde LB, Hasstedt SJ, Ritvo ER, Mason-Brothers A, Freeman BJ, Pingree C, McMahon WM, Petersen B, Jenson WR, Mo A. 1991. Complex segregation analysis of autism. Am J Hum Genet 49:932-938.
20. Klauck SM, Poustka F, Benner A, Lesch KP, Poustka A. 1997. Serotonin transporter (5-HTT) gene variants associated with autism? Hum Mol Genet 6:2233-2238.
21. Lander ES, Kruglyak L. 1995. Genetic dissection of complex traits. Nat Genet 11:241-247.
22. Le Couteur A, Rutter M, Lord C, Rios P, Robertson S, Holdgrafer M, McLennan J. 1989. Autism diagnostic interview: a standardized investigator-based instrument. J Autism Dev Disord 19:363-387. (Pubitemid 19233509)
23. 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. (Pubitemid 19176529)
24. 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. (Pubitemid 24309810)
25. Lord C, Pickles A, McLennan J, Rutter M, Bregman J, Folstein S, Fombonne E, Leboyer M, Minshew N. 1997. Diagnosing autism: analyses of data from the Autism Diagnostic Interview. J Autism Dev Disord 27:501-517. (Pubitemid 27513149)
26. Maestrini E, Lai C, Marlow A, Matthews N, Wallace S, Bailey A, Cook EH, Weeks DE, Monaco AP. 1999. Serotonin transporter (5-HTT) and gamma-aminobutyric acid receptor subunit beta3 (GABRB3) gene polymorphisms are not associated with autism in the IMGSA families: the International Molecular Genetic Study of Autism Consortium. Am J Med Genet (Neuropsychiatr Genet) 88:492-496.
27. Mark M, Lufkin T, Vonesch JL, Ruberte E, Olivo JC, Dolle P, Gorry P, Lumsden A, Chambon P. 1993. Two rhombomeres are altered in Hoxa-1 mutant mice. Development 119:319-338. (Pubitemid 23293179)
28. Martin ER, Menold MM, Wolpert CM, Bass MP, Donnelly SL, Ravan SA, Zimmerman A, Gilbert JR, Vance JM, Maddox LO, et al. 2000. Analysis of linkage disequilibrium in gamma-aminobutyric acid receptor subunit genes in autistic disorder. Am J Med Genet (Neuropsychiatr Genet) 96:43-48. (Pubitemid 30077648)
29. Mbarek O, Marouillat S, Martineau J, Barthelemy C, Muh JP, Andres C. 1999. Association study of the NF1 gene and autistic disorder. Am J Med Genet (Neuropsychiatr Genet) 88:729-732.
30. Nickerson DA, Tobe VO, Taylor SL. 1997. PolyPhred: automating the detection and genotyping of single nucleotide substitutions using fluorescence-based resequencing. Nucl Acids Res 25:2745-2751.
31. Philippe A, Martinez M, Guilloud-Bataille M, Gillberg C, Rastam M, Sponheim E, Coleman M, Zappella M, Aschauer H, Van Maldergem L, et al. 1999. Genome-wide scan for autism susceptibility genes: Paris Autism Research International Sibpair Study. Hum Mol Genet 8:805-812.
32. Risch N, Spiker D, Lotspeich L, Nouri N, Hinds D, Hallmayer J, Kalaydjieva L, McCague P, Dimiceli S, Pitts T, et al. 1999. A genomic screen of autism: evidence for a multilocus etiology. Am J Hum Genet 65:493-507. (Pubitemid 30463007)
33. Rodier PM. 1999. The early origins of autism. Sci Am 282:56-63.
34. Rodier PM, Ingram JL, Tisdale B, Nelson S, Romano J. 1996. Embryological origin for autism: developmental anomalies of the cranial nerve motor nuclei. J Comp Neurol 370:247-261. (Pubitemid 26227148)
35. Salmon B, Hallmayer J, Rogers T, Kalaydjieva L, Petersen PB, Nicholas P, Pingree C, McMahon W, Spiker D, Lotspeich L, et al. 1999. Absence of linkage and linkage disequilibrium to chromosome 15q11-q13 markers in 139 multiplex families with autism. Am J Med Genet (Neuropsychiatr Genet) 88:551-556. (Pubitemid 29485085)
36. Smalley SL. 1998. Autism and tuberous sclerosis. J Autism Dev Disord 28:407-414.
37. Smalley SL, Asarnow RF, Spence MA. 1988. Autism and genetics: a decade of research. Arch Gen Psychiatry 45:953-961.
38. Spielman RS, McGinnis RE, Ewens WJ. 1993. Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus (IDDM). Am J Hum Genet 52:506-516. (Pubitemid 23311321)
39. Spiker D, Lotspeich L, Kraemer HC, Hallmayer J, McMahon W, Peterson PB, Wong DL, Dimiceli S, Ritvo E, Cavalli-Sforza LL, Ciaranello RD. 1994. Genetics of autism; characteristics of affected and unaffected children from 37 multiplex families. Am J Med Gen 54:27-35. (Pubitemid 24066658)
40. Steffenburg S, Gillberg C, Hellgren L, Andersson L, Gillberg IC, Jakobsson G, Bohman M. 1989. A twin study of autism in Denmark, Finland, Iceland, Norway and Sweden. J Child Psychol Psychiatry 30:405-416. (Pubitemid 19131643)
41. Strömland K, Nordin V, Miller M, Akerstrom B, Gillberg C. 1994. Autismin thalidomide embryopathy: a population study. Dev Med Child Neurol 36:351-356. (Pubitemid 24088565)
42. Szatmari P, Jones MB, Zwaigenbaum L, MacLean JE. 1998. Genetics of autism: overview and new directions. J Autism Dev Disord 28:351-368. (Pubitemid 29101853)
43. Veenstra-VanderWeele J, Gonen D, Leventhal BL, Cook EH Jr. 1999. Mutation screening of the UBE3A/E6-AP gene in autistic disorder. Mol Psychiatry 4:64-67. (Pubitemid 29050203)
44. Zhong N, Ye L, Ju W, Brown WT, Tsiouris J, Cohen I. 1999. 5-HTTLPR variants not associated with autistic spectrum disorders. Neurogenetics 2:129-131. (Pubitemid 29234441)