Genomic screen and follow-up analysis for autistic disorder

American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics

Volumn 114, Issue 1, 2002, Pages 99-105

  Shao, Yujun ^a   Wolpert, Chantelle M ^a   Raiford, Kimberly L ^a   Menold, Marisa M ^a   Donnelly, Shannon L ^a   Ravan, Sarah A ^b   Bass, Meredyth P ^a   McClain, Cate ^c   Von Wendt, Lennart ^d   Vance, Jeffery M ^a   Abramson, Ruth H ^b   Wright, Harry H ^b   Ashley Koch, Allison ^a   Gilbert, John R ^a   DeLong, Robert G ^a   Cuccaro, Michael L ^b   Pericak Vance, Margaret A ^a  

^a DUKE UNIVERSITY MEDICAL CENTER   (United States)

^b UNIVERSITY OF SOUTH CAROLINA   (United States)

^c UNIVERSITY OF NEW MEXICO   (United States)

^d HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

Author keywords

Autistic disorder; Chromosome; Genomic screen; Linkage

Indexed keywords

MICROSATELLITE DNA;

ADULT; AUTISTIC DISORDER; CHROMOSOME MAP; GENETIC LINKAGE; GENETIC PREDISPOSITION; GENETIC SCREENING; GENETICS; GENOTYPE; HUMAN; PRESCHOOL CHILD;

ADULT; AUTISTIC DISORDER; CHILD, PRESCHOOL; CHROMOSOME MAPPING; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; GENOTYPE; HUMANS; LOD SCORE; MICROSATELLITE REPEATS;

EID: 37649026213     PISSN: 15524841     EISSN: 1552485X     Source Type: Journal    
DOI: 10.1002/ajmg.10153     Document Type: Article

References (62)

1. Arrieta I, Lobato MN, Martinez B, Criado B. 1994. Parental origin of Robertsonian translocation (15q22q) and Prader-Willi syndrome associated with autism. Psychiatr Genet 4:63-65. (Pubitemid 24133302)
2. Ashley-Koch A, Wolpert CM, Menold MM, Zaeem L, Basu S, Donnelly SL, Ravan SA, Powell CM, Qumsiyeh MB, Aylsworth AS, Vance JM, Gilbert JR, Wright HH, Abramson RK, DeLong GR, Cuccaro ML, Pericak-Vance MA. 1999. Genetic studies of autistic disorder and chromosome 7. Genomics 61:227-236.
3. 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.
4. Bass MP, Menold MM, Wolpert CM, Donnelly SL, Ravan SA, Hauser ER, Maddox LO, Vance JM, Abramson RK, Wright HH, Gilbert JR, Cuccaro ML, DeLong GR, Pericak-Vance MA. 1999. Genetic studies in autistic disorder and chromosome 15. Neurogenetics 2:219-226.
5. Bass MP, Menold MM, Joyner KL, Wolpert CM, Donnelly SL, Ravan SA, McClain C, von Wendt L, Gilbert JR, Wright HH, Abramson RK, DeLong GR, Cuccaro ML, Pericak-Vance MA. 2000. Association analysis of GI candidate genes in autistic disorder. Am J Hum Genet 67:349:1946.
6. 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)
7. Bradford Y, Haines J, Hutcheson H, Gardiner M, Braun T, Sheffield V, Cassavant T, Huang W, Wang K, Vieland V, Folstein S, Santangelo S, Piven J. 2001. Incorporating language phenotypes strengthens evidence of linkage to autism. Am J Med Genet 105:539-547. (Pubitemid 32729823)
8. Bryson SE. 1996. Brief report: epidemiology of autism. J Autism Dev Disord 26:165-167.
9. Buxbaum JD, Silverman JM, Smith CJ, KilifarskiM, Reichert J, Hollander E, Lawlor BA, Fitzgerald M, Greenberg DA, Davis KL. 2001. Evidence for a susceptibility gene for autism on chromosome 2 and for genetic heterogeneity. Am J Hum Gen 68:1514-1520. (Pubitemid 32510628)
10. Collaborative Linkage Study of Autism. 1999. An autosomal genomic screen for autism. Am J Med Genet (Neuropsych Genet) 88:609-615.
11. Cook EH Jr, Lindgren V, Leventhal BL, Courchesne R, Lincoln A, Shulman C, Lord C, Courchesne E. 1997. Autism or atypical autism in maternally but not paternally derived proximal 15q duplication. Am J Hum Genet 60:928-934. (Pubitemid 27146502)
12. Cook EH Jr, Courchesne RY, Cox NJ, Lord C, Gonen D, Guter SJ, Lincoln A, Nix K, Haas R, Leventhal BL, Courchesne E. 1998. Linkage-disequilibrium mapping of autistic disorder, with 15q11-13 markers. Am J Hum Genet 62:1077-1083. (Pubitemid 28199008)
13. Cuccaro ML, Wolpert CM, McClintock DE, Abramson RK, Beaty LM, Storoschuk S, Zimmerman A, Frye V, Potter N, Cook E, Stevenson R, DeLong GR, Wright HH, Pericak-Vance MA. 1996. Familial aggregation in autism: evidence against X-linkage as a major genetic etiology. Am J Hum Gen 59(suppl):1000.
14. Demb HB, Papola P. 1995. PDD and Prader-Willi syndrome. J Am Acad Child Adolesc Psychiatry 34:539-540.
15. DiLavore PC, Lord C, Rutter M. 1995. The pre-linguistic autism diagnostic observation schedule. J Autism Dev Disord 25:355-379.
16. Dykens EM, Kasari C. 1997. Maladaptive behavior in children with Prader- Willi syndrome, Down syndrome, and nonspecific mental retardation. Am J Ment Retard 102:228-237. (Pubitemid 27509399)
17. Ferguson AT, Evron E, Umbricht CB, Pandita TK, Chan TA, Hermeking H, Marks JR, Lambers AR, Futreal PA, Stampfer MR, Sukumar S. 2000. High frequency of hypermethylation at the 14-3-3 sigma locus leads to gene silencing in breast cancer. Proc Natl Acad Sci USA 97:6049-6054. (Pubitemid 30367521)
18. Fisher SE, Vargha-Khadem F, Watkins KE, Monaco AP, Pembrey ME. 1998. Localization of a gene implicated in a severe speech and language disorder. Nat Genet 18:168-170. (Pubitemid 28082466)
19. Flejter WL, Bennett-Baker PE, Ghaziuddin M, McDonald M, Sheldon S, Gorski JL. 1996. Cytogenetic and molecular analysis of inv dup(15) chromosomes observed in two patients with autistic disorder and mental retardation. Am J Med Genet 61:182-187. (Pubitemid 26007704)
20. Folstein SE, Piven J. 1991. Etiology of autism: genetic influences. Pediatrics 87:767-773.
21. Haines JL, Terwedow HA, Burgess K, Pericak-Vance MA, Rimmler JB, Martin ER, Oksenberg JR, Lincoln R, Zhang DY, Banatao DR, Gatto N, Goodkin DE, Hauser SL. 1998. Linkage of the mhc to familial multiple sclerosis suggests genetic heterogeneity. The multiple sclerosis genetics group. Hum Mol Genet 7:1229-1234. (Pubitemid 28383054)
22. Hallmayer J, Spiker D, Lotspeich L, McMahon WM, Petersen PB, Nicholas P, Pingree C, Ciaranello RD. 1996. Male-to-male transmission in extended pedigrees with multiple cases of autism. Am J Med Genet 67:13-18. (Pubitemid 26100553)
23. Hauser ER, Boehnke M, Guo S, Risch N. 1996. Affected-sib-pair interval mapping and exclusion for complex genetic traits: sampling considerations. Genet Epidemiol 13:117-137. (Pubitemid 26131449)
24. Ho PK, Fong RS, Kai HS, Lau EH. 1999. The human secretin receptor gene: genomic organization and promoter characterization. FEBS Lett 455:209-214. (Pubitemid 29333037)
25. Holopainen P, Arvas M, Sistonen P, Mustalahti K, Collin P, Maki M, Partanen J. 1999. Cd28/ctla4 gene region on chromosome 2q33 confers genetic susceptibility to celiac disease. A linkage and family-based association study. Tissue Antigens 53:470-475.
26. Horvath K, Papadimitriou JC, Rabsztyn A, Drachenberg C, Tildon JT. 1999. Gastrointestinal abnormalities in children with autistic disorder. J Pediatr 135:559-563. (Pubitemid 30180444)
27. Insel TR, O'Brien DJ, Leckman JF. 1999. Oxytocin, vasopressin, and autism: is there a connection? Biol Psychiatry 45:145-157.
28. 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.
29. 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.
30. Lai CS, Fisher SE, Hurst JA, Levy ER, Hodgson S, Fox M, Jeremiah S, Povey S, Jamison DC, Green ED, Vargha-Khadem F, Monaco AP. 2000. The SPCH1 region on human 7q31: genomic characterization of the critical interval and localization of translocations associated with speech and language disorder. Am J Hum Genet 67:357-368. (Pubitemid 30616741)
31. Lathrop GM, Lalouel JM, Julier C, Ott J. 1984. Strategies for multilocus linkage analysis in humans. Proc Natl Acad Sci USA 81:3443-3446. (Pubitemid 14122690)
32. Leana-Cox J, Jenkins L, Palmer CG, Plattner R, Sheppard L, Flejter WL, Zackowski J, Tsien F, Schwartz S. 1994. Molecular cytogenetic analysis of inv dup(15) chromosomes, using probes specific for the Prader-Willi/ Angelman syndrome region: clinical implications. Am J Hum Genet 54:748-756. (Pubitemid 24135790)
33. Lindgren V, Cook Jr EH, Leventhal BL, Courchesne R, Lincoln A, Shulman C, Lord C, Courchesne E. 1996. Maternal origin of proximal 15q duplication in autism. Am J Hum Genet 39:688.
34. Liu J, Nyholt DR, Magnussen P, Parano E, Pavone P, Geschwind D, Lord C, Iversen P, Hoh J, Ott J, Gilliam TC, Austism Genetic Resource Exchange Consortium, 2001. A genomewide screen for autism susceptibility loci. Am J Hum Genet 69:327-340.
35. Lord C, Rutter M, LeCouteur 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)
36. Lotspeich LJ, Ciaranello RD. 1993. The neurobiology and genetics of infantile autism. Int Rev Neurobiol 35:87-129.
37. Martin ER, Menold MM, Wolpert CM, Bass MP, Donnelly SL, Ravan SA, Zimmerman A, Gilbert JR, Vance JM, Maddox LO, Wright HH, Abramson RK, DeLong GR, Cuccaro ML, Pericak-Vance MA. 2000. Analysis of linkage disequilibrium in g-aminobutyric acid receptor subunit genes in autistic disorder. Am J Hum Genet (Neuropsychiatr Genet) 96:43-48. (Pubitemid 30077648)
38. Masser DS, Filipek PA, Spence MA, Smith M. 1998. Chromosome 15q duplication and autism. Am J Hum Genet 63:112.
39. McLennan JD, Lord C, Schopler E. 1993. Sex differences in higher functioning people with autism. J Autism Dev Discord 23:217-227. (Pubitemid 23170695)
40. Menold MM, Bass MP, Gilbert JR, Wolpert CM, Donnelly SL, Poole CW, Shao YJ, Ravan SA, McClain C, von Wendt L, Zimmerman A, Wright HH, Abramson RK, De Long GR, Cuccaro ML, Pericak-Vance MA. 2000. SNP analysis of GABAA receptor subunit in autistic disorder. Am J Hum Genet 67:339.
41. Ott J. 1999. Analysis of human genetic linkage, 3rd edition. Baltimore,MD: Johns Hopkins University Press. p 405.
42. Penner KA, Johnston J, Faircloth BH, Irish P, Williams CA. 1993. Communication, cognition, and social interaction in the Angelman syndrome. Am J Med Genet 46:34-39. (Pubitemid 23103897)
43. Pericak-Vance MA, Bass MP, Yamaoka LH, Gaskell PC, Scott WK, Terwedow HA, Menold MM, Conneally PM, Small GW, Vance JM, Saunders AM, Roses AD, Haines JL. 1997. Complete genomic screen in late-onset familial Alzheimer disease: evidence for a new locus on chromosome 12. JAMA 278:1237-1241.
44. Philippe A, Martinez M, Guilloud-Bataille M, Gillberg C, Rastam M, Sponheim E, Coleman M, Zappella M, Aschauer H, Van Maldergem L, Penet C, Feingold J, Brice A, Leboyer M, van Malldergerme L. 1999. Genome-wide scan for autism susceptibility genes. Pairs autism research international sibpair study. Hum Mol Genet 8:805-812. (Pubitemid 29189047)
45. Pickles A, Bolton P, Macdonald H, Bailey A, Le Couteur A, Sim CH, Rutter M. 1995. Latent-class analysis of recurrence risks for complex phenotypes with selection and measurement error: a twin and family history study of autism. Am J Hum Genet 57:717-726.
46. Rimmler JB, Haynes CS, McDowell JG, Stajich JE, Adams CS, Slotterbeck BD, Rogala AR, West SG, Gilbert JR, Hauser ER, Vance JM, Pericak-Vance MA. 1999. DataTracker: comprehensive software for data quality control protocols in complex disease studies. Am J Hum Genet 65:2506.
47. Risch N, Spiker D, Lotspeich L, Nouri N, Hinds D, Hallmayer J, Kalaydjieva L, McCague P, Dimiceli S, Pitts T, Nguyen L, Yang J, Harper C, Thorpe D, Vermeer S, Young H, Hebert J, Lin A, Ferguson J, Chiotti C, Wiese-Slater S, Rogers T, Salmon B, Nicholas P, Petersen PB, Pingree C, McMahon W, Wong DL, Cavalli-Sforza LL, Kraemer HC, Myers RM. 1999. A genomic screen of autism: evidence for a multilocus etiology. Am J Hum Genet 65:493-507. (Pubitemid 30463007)
48. Roberts SB, MacLean CJ, Neale MC, Eaves LJ, Kendler KS. 1999. Replication of linkage studies of complex traits: an examination of variation in location estimates. Am J Hum Genet 65:876-884.
49. Robinson WP, Wagstaff J, Bernasconi F, Baccichetti C, Artifoni L, Franzoni E, Suslak L, Shih LY, Aviv H, Schinzel AA. 1993. Uniparental disomy explains the occurrence of the Angelman or Prader-Willi syndrome in patients with an additional small inv dup(15) chromosome. J Med Genet 30:756-760. (Pubitemid 23270819)
50. Santangelo SL, Collaborative Linkage Study of Autism, Buxbaum J, Silverman J, Pericak-Vance MA, Ashley-Koch A. 2000. Confirmatory evidence of linkage for autism to 7q based on combined analysis of three independent data sets. Am J Hum Genet 67:80.
51. Schaffer AA, Gupta SK, Shriram K, Cottingham RW. 1994. Avoiding recomputation in linkage analysis. Hum Hered 44:225-237.
52. Schinzel AA, Brecevic L, Bernasconi F, Binkert F, Berthet F, Wuilloud A, Robinson WP. 1994. Intrachromosomal triplication of 15q11-q13. J Med Genet 10:798-803.
53. Sparrow SS, Balla D, Cicchetti D. 1984. Vineland adaptive behavior scales. Circle Pines, MN: American Guidance Service.
54. 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)
55. Steffenburg S, Gillberg CL, Steffenburg U, Kyllerman M. 1996. Autism in Angelman syndrome: a population-based study. Pediatr Neurol 14:131-136. (Pubitemid 26104417)
56. Summers JA, Allison DB, Lynch PS, Sandler L. 1995. Behavior problems in Angelman syndrome. J Intellect Disabil Res 39:97-106.
57. Vance JM. 1998. Approaches to gene mapping in complex human diseases. The collection of biological samples. In: Haines JL, Pericak-Vance MA, editors. New York: Wiley-Liss. p 201-211.
58. Volkmar FR, Szatmari P, Sparrow SS. 1993. Sex differences in pervasive developmental disorders. J Autism Dev Disord 23:579-591. (Pubitemid 24004287)
59. Wang CH, Villaca-Norat E, Papendick BD, Gavrilov DK, Hillman RE, Miles JH. 1998. Molecular analysis of the chromosome 15q11-13 region in children with autism. Am J Hum Genet 63:344.
60. Weeks DE, Lathrop GM. 1995. Polygenic disease: methods for mapping complex disease traits. Trends Genet 11:513-519.
61. Weeks DE, Conley YP, Mah TS, Paul TO, Morse L, Ngo-Chang J, Dailey JP, Ferrell RE, Gorin MB. 2000. A full genome scan for age-related maculopathy. Hum Mol Genet 9:1329-1349. (Pubitemid 30312482)
62. Wolpert CM, Menold MM, Bass MP, Qumsiyeh MB, Donnelly SL, Ravan SA, Vance JM, Gilbert JR, Abramson RK, Wright HH, Cuccaro ML, Pericak-Vance MA. 2000. Three probands with autistic disorder and isodicentric 15 chromosomes. Neuropsych Genet 96:365-372.