Pilot assessment of the subtelomeric regions of children with autism: Detection of a 2q deletion

Genetics in Medicine

Volumn 4, Issue 1, 2002, Pages 10-14

  Wolff, Daynna J ^a   Clifton, Kimberly ^b   Karr, Cynthia ^b   Charles, Jane ^a  

^a MEDICAL UNIVERSITY OF SOUTH CAROLINA   (United States)

^b MEDICAL UNIVERSITY OF SOUTH CAROLINA   (United States)

Author keywords

2q; Autism; Chromosome deletion; Subtelomere

Indexed keywords

ARTICLE; AUTISM; CHILD; CHROMOSOME 2Q; CHROMOSOME ABERRATION; CHROMOSOME DELETION; CLINICAL ARTICLE; CLINICAL ASSESSMENT; CONTROLLED STUDY; CYTOGENETICS; FACE DYSMORPHIA; GENETIC PREDISPOSITION; GENETIC SCREENING; HUMAN; TELOMERE; CASE CONTROL STUDY; CASE REPORT; CHROMOSOME 2; FLUORESCENCE IN SITU HYBRIDIZATION; GENETICS; MALE; PILOT STUDY; PRESCHOOL CHILD;

AUTISTIC DISORDER; CASE-CONTROL STUDIES; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 2; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; PILOT PROJECTS; TELOMERE;

EID: 0036358010     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/00125817-200201000-00002     Document Type: Article

References (32)

1. Klin A, Volkmar FR. Autism and other pervasive developmental disorders. In: Goldstein S, Reynolds CR, editors. Handbook of neurodevelopmental and genetic disorders in children. New York: Guilford Press, 1999:257.
2. American Psychiatric Association (1994) Diagnostic and Statistical Manual of Mental Disorders, 4th edition (DSM-IV). Washington, DC: American Psychiatric Association.
3. Lord C, Rutter M, Le Couleur 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 1994;24:659-685.
4. Lord C, Rutter M, DiLavore P. Autism diagnostic observation schedule-generic. Chicago, IL: University of Chicago, Dept. of Psychiatry, 1998.
5. Rutter M, Bailey A, Bolton P, Le Couteur A. Autism and known medical conditions. J Child Psychol Psychiatry 1994;35:311-322.
6. Schroer RJ, Phelan MC, Michaelis RC, Crawford EC, Skinner SA, Cuccaro M, Simensen RJ, Bishop J, Skinner C, Fender D, Stevenson RE. Autism and maternally derived aberrations of chromosome 15q. Am J Med Genet 1998;76:327-336.
7. Weidmer-Mikhail E, Sheldon S, Ghaziuddin M. Chromosomes in autism and related pervasive developmental disorders: a cytogenetic study. J Intellect Disabil Res 1998;42:8-12.
8. Bailey A, Phillips W, Rutter M. Autism: towards an integration of clinical, genetic, neuropsychological, and neurobiological perspectives. J Child Psychol Psychiatry 1996;37:89-126.
9. Szatmari P, Jones MB, Zwaigenbaum L, MacLean JE. Genetics of autism: overview and new directions. J Autism Dev Dis 1998;28:351-368.
10. International Molecular Genetic Study of Autism Consortium. A full genome screen for autism with evidence for linkage to a region on chromosome 7q. Hum Mol Genet 1998;7:571-578.
11. Philippe A, Martinez M, Guilloud-Bataille M, Gillberg C, Rastam M, Sponheim E, Coleman M, Zappella M, Aschauer H, van Malldergerme L. Genome-wide scan for autism susceptibility genes. Paris Autism Research International Sibpair Study. Hum Mol Genet 1999;8:805-812.
12. Barrett S, Beck JC, Bernier R, Bisson E, Braun TA, Casavant TL, Childress D, Folstein SE, Garcia M, Gardiner MB, Gilman S, Haines JL, Hopkins K, Landa R, Meyer NH, Mullane JA, Nishimura DY, Palmer P, Piven J, Purdy J, Santangelo SL, Searby C, Sheffield V, Singleton J, Slager S, et al. An autosomal genomic screen for autism. Collaborative linkage study of autism. Am J Med Genet 1999;88:609-615.
13. 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, Myers RM, et al. A genomic screen of autism: evidence for a multilocus etiology. Am J Hum Genet 1999;65:493-507.
14. Buxbaum JD, Silverman JM, Smith CJ, Kilifarski M, Reichert J, Hollander E, Lawlor BA, Fitzgerald M, Greenberg DA, Davis KL. Evidence for a susceptibility gene for autism on chromosome 2 and for genetic heterogeneity. Am J Hum Genet 2001;68:1514-1520
15. International Molecular Genetic Study of Autism Consortium. A genomewide screen for autism: strong evidence for linkage to chromosomes 2q, 7q, and 16p. Am J Hum Genet 2001;69:570-581
16. Lamb JA, Moore J, Bailey A, Monaco AP. Autism: recent molecular genetic advances. Hum Mol Genet 2000;9:861-868.
17. Mauk JE. Autism and pervasive developmental disorders. Pediatr Clin North Am 1993;40:567-578.
18. Knight S, Horsley S, Regan R, Lawrie N, Maher E, Cardy D, Flint J, Kearney L. Development and clinical application of an innovative fluorescence in situ hybridization technique which detects submicroscopic rearrangements involving telomeres. Eur J Hum Genet 1997;5:1-8.
19. Ghaffari S, Boyd E, Tolmie JL, Crow Y, Trainer A, Connor M. A new strategy for cryptic telomeric translocation screening in patients with idiopathic mental retardation. J Med Genet 1998;35:225-233.
20. Knight SJ, Regan R, Nicod A, Horsley SW, Kearney L, Homfray T, Winter RM, Bolton P, Flint J. Subtle chromosomal rearrangements in children with unexplained mental retardation. Lancet 1999;354:1676-1681.
21. Flint J, Wilkie A, Buckle VJ, Winter RM, Holland AJ, McDermid HE. The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation. Nat Genet 1995;9:132-140.
22. Voit G, Gosset P, Fert S, Prieur M, Turleau C, Raoul O, DeBlois MC, Lyonnet S, Munnich A, Vekemans M. Cryptic subtelomeric rearrangements detected by FISH in mentally retarded and dysmorphic patients. Am J Hum Genet (Suppl) 1998;63:A44.
23. Vorsanova SG, Kolotii AD, Sharonin VO, Soloview IV, Yurov YB. FISH analysis of microaberrations at telomeric and subtelomeric regions in chromosomes of children with mental retardation. Am J Hum Genet (Suppl) 1998;63:A873.
24. National Institutes of Health, and Institute of Molecular Medicine Collaborative Group. A complete set of human telomeric probes and their clinical application. Nat Genet 1996;14:86-89.
25. Schopler E, Reichler RJ, Renner BR. The Childhood Autism Rating Scale. Los Angeles, CA: Western Psychological Services, 1998.
26. DiLavore P, Lord C, Rutter M. The Pre-Linguistic Autism Diagnostic Observation Schedule. J Autism Dev Disord 1995;24:355-379.
27. Kumar A, Becker LA, Depinet TW, Haren JM, Kurtz CL, Robin NH, Cassidy SB, Wolff DJ, Schwartz S. Molecular characterization and delineation of subtle deletions in de novo "balanced" chromosomal rearrangements. Hum Genet 1998;103:173-178.
28. Conrad B, Dewald G, Christensen E, Lopez M, Higgins J, Pierpont ME. Clinical phenotype associated with terminal 2q37 deletion. Clin Genet 1995;48:134-139.
29. Ghaziuddin M, Burmeister M. Deletion of chromosome 2q37 and autism: a distinct subtype? J Autism Dev Disord 1999;29:259-263.
30. Trask BJ, Friedman C, Martin-Gallardo A, Rowen L, Akinbami C, Blankenship J, Collins C, Giorgi D, Iadonato S, Johnson F, Kuo WL, Massa H, Morrish T, Naylor S, Nguyen OT, Rouquier S, Smith T, Wong DJ, Youngblom J, van den Engh G. Members of the olfactory receptor gene family are contained in large blocks of DNA duplicated polymorphically near the ends of human chromosomes. Hum Mol Genet 1998;7:13-26.
31. Macina RA, Negorev DG, Spais C, Ruthig LA, Hu X-L, Riethman HC. Sequence organization of the human chromosome 2q telomere. Hum Mol Genet 1994;3:1847-183.
32. Ballif BC, Kashork CD, Shaffer LG. The promise and pitfalls of telomere region-specific probes [letter]. Am J Hum Genet 2000;67:1356-1359.