Autism spectrum disorders associated with chromosomal abnormalities

Research in Autism Spectrum Disorders

Volumn 4, Issue 3, 2010, Pages 319-327

  Lo Castro, Adriana ^a   Benvenuto, Arianna ^a   Galasso, Cinzia ^a   Porfirio, Cristina ^a   Curatolo, Paolo ^a  

^a UNIVERSITY OF ROME TOR VERGATA   (Italy)

Author keywords

Autism spectrum disorders; Chromosomal abnormalities; Dysmorphic features; Genetics; Mental retardation; Minor physical anomalies

Indexed keywords

CATECHOL METHYLTRANSFERASE;

ANAMNESIS; ASPERGER SYNDROME; AUTISM; CHROMOSOME 15Q; CHROMOSOME 17P; CHROMOSOME 22Q; CHROMOSOME 2Q; CHROMOSOME 3Q; CHROMOSOME ABERRATION; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CHROMOSOME INVERSION; CLINICAL FEATURE; DIFFERENTIAL DIAGNOSIS; DISEASE ASSOCIATION; GENE EXPRESSION; HERITABILITY; HUMAN; INTERSTITIAL CHROMOSOME DELETION; PEDIGREE ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; REVIEW;

EID: 77949570534     PISSN: 17509467     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.rasd.2009.10.006     Document Type: Review

References (49)

1. Abrahams B.S., and Geschwind D.H. Advances in autism genetics: On the threshold of a new neurobiology. Nature Reviews Genetics 9 (2008) 341-355
2. Aldred M., Sanford R., Thomas N., Barrow M., Wilson L., Brueton L., et al. Molecular analysis of 20 patients with 2q37.3 monosomy: Definition of minimum deletion intervals for key phenotypes. Journal of Medical Genetics 41 (2004) 433-439
3. Ballif B.C., Theisen A., Coppinger J., Gowans G.C., Hersh J.H., Madan-Khetarpal S., et al. Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication. Molecular Cytogenetics 1 (2008) 8
4. Battaglia A. The inv dup(15) or idic(15) syndrome: A clinically recognisable neurogenetic disorder. Brain & Development 27 (2005) 365-369
5. Battaglia A. The inv dup (15) or idic (15) syndrome (Tetrasomy 15q). Orphanet Journal of Rare Diseases 3 (2008) 30
6. Battaglia A., Novelli A., Bernardini L., Igliozzi R., and Parrini B. Further characterization of the new microdeletion syndrome of 16p11.2-p12.2. American Journal of Medical Genetics A 149 (2009) 1200-1204
7. Ben-Shachar S., Lanpher B., German J.R., Qasaymeh M., Potocki L., Sreenath Nagamani S.C., et al. Microdeletion 15q13.3: A locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders. Journal of Medical Genetics 46 (2009) 382-388
8. Benvenuto A., Moavero R., Alessandrelli R., Manzi B., and Curatolo P. Syndromic autism: Causes and pathogenetic pathways. World Journal of Pediatrics 5 (2009) 169-176
9. Bonati M.T., Russo S., Finelli P., Valsecchi M.R., Cogliati F., Cavalleri F., et al. Evaluation of autism traits in Angelman syndrome: A resource to unfold autism genes. Neurogenetics 8 (2007) 169-178
10. Brunetti-Pierri N., Berg J.S., Scaglia F., Belmont J., Bacino C.A., Sahoo T., et al. Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities. Nature Genetics 40 (2008) 1466-1471
11. Caronna E.B., Milunsky J.M., and Tager-Flusberg H. Autism spectrum disorders: Clinical and research frontiers. Archives of Disease in Childhood 93 (2008) 518-523
12. Casas K.A., Mononen T.K., Mikail C.N., Hassed S.J., Li S., Mulvihill J.J., et al. Chromosome 2q terminal deletion: report of 6 new patients and review of phenotype-breakpoint correlations in 66 individuals. American Journal of Medical Genetics A 130A (2004) 331-339
13. Christian S.L., Brune C.W., Sudi J., Kumar R.A., and Liu S. Novel submicroscopic chromosomal abnormalities detected in Autism Spectrum Disorder. Biological Psychiatry 63 (2008) 1111-1117
14. Digilio M.C., Bernardini L., Mingarelli R., Capolino R., Capalbo A., Giuffrida M.G., et al. 3q29 microdeletion: A mental retardation disorder unassociated with a recognizable phenotype in two mother-daughter pairs. American Journal of Medical Genetics A 149 (2009) 1777-1781
15. Doco-Fenzy M., Holder-Espinasse M., Bieth E., Magdelaine C., Vincent M.C., Khoury M., et al. The clinical spectrum associated with a chromosome 17 short arm proximal duplication (dup 17p11.2) in three patients. American Journal of Medical Genetics 146 (2008) 917-924
16. Dykens E.M., Sutcliffe J.S., and Levitt P. Autism and 15q11-q13 disorders: Behavioral, genetic, and pathophysiological issues. Mental Retardation and Developmental Disabilities Research Reviews 10 (2004) 284-291
17. Engels H., Brockschmidt A., Hoischen A., Landwehr C., Bosse K., Walldorf C., et al. DNA microarray analysis identifies candidate regions and genes in unexplained mental retardation. Neurology 68 (2007) 743-750
18. Falk R.E., and Casas K.A. Chromosome 2q37 deletion: Clinical and molecular aspects. American Journal Medical Genetics C 145 (2007) 357-371
19. Galasso C., Lo-Castro A., Lalli C., Nardone A.M., Gullotta F., and Curatolo P. Deletion 2q 37: An identifiable clinical syndrome with mental retardation and autism. Journal of Child Neurology 23 (2008) 802-806
20. Hammock E.A.D., and Levitt P. The discipline of neurobehavioral development: The emerging interface of processes that build circuits and skills. Human Development 49 (2006) 294-309
21. Hassed S., Vaz S.A., Lee J., Mulvihill J.J., and Li S. Expanded phenotype on the 22q duplication syndrome. American Journal of Human Genetics 75 (2004) 151
22. Jacquemont M.L., Sanlaville D., Redon R., Raoul O., Cormier-Daire V., Lyonnet S., et al. Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders. Journal of Medical Genetics 43 (2006) 843-849
23. Jones K.L., and Smith D.W. Smith's recognizable patterns of human malformation. 6th ed. (2006), Elsevier Saunders, Philadelphia
24. Kumar R.A., Marshall C.R., Badner J.A., Babatz T.D., Mukamel Z., Aldinger K.A., et al. Association and mutation analyses of 16p11.2 autism candidate genes. PLoS One 4 (2009) e4582
25. Kusenda M., and Sebat J. The role of rare structural variants in the genetics of autism spectrum disorders. Cytogenetics Genome Research 123 (2008) 36-43
26. Lo-Castro A., Galasso C., Cerminara C., El-Malhany N., Benedetti S., Nardone A.M., et al. Association of syndromic mental retardation and autism with 22q11.2 duplication. Neuropediatrics 40 (2009) 1-9
27. Lo-Castro A., Giana G., Fichera M., Castiglia L., Grillo L., Musumeci S.A., et al. Deletion 2p25.2: A cryptic chromosome abnormality in a patient with autism and mental retardation detected using aCGH. European Journal of Medical Genetics 52 (2009) 67-70
28. Marshall C.R., Noor A., Vincent J.B., Lionel A.C., Feuk L., Skaug J., et al. Structural variation of chromosomes in autism spectrum disorder. American Journal of Human Genetics 82 (2008) 477-488
29. Matson J.L., and Shoemaker M. Intellectual disability and its relationship to autism spectrum disorders. Research in Developmental Disabilities 30 (2009) 1107-1114
30. Mefford H.C., Sharp A.J., Baker C., Itsara A., Jiang Z., Buysse K., et al. Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. The New England Journal of Medicine 359 (2008) 1685-1689
31. Menold M.M., Shao Y., Wolpert C.M., Donnelly S.L., Raiford K.L., Martin E.R., et al. Association analysis of chromosome 15 gabaa receptor subunit genes in autistic disorder. Journal of Neurogenetics 15 (2001) 245-259
32. Miles J.H., and Hillman R.E. Value of a clinical morphology examination in autism. American Journal of Medical Genetics 91 (2000) 245-253
33. Miles J.H., Takahashi T.N., Bagby S., Sahota P.K., Vaslow D.F., Wang C.H., et al. Essential versus complex autism: Definition of fundamental prognostic subtypes. American Journal of Medical Genetics 135 (2005) 171-180
34. Mukaddes N.M., and Herguner S. Autistic disorder and 22q11.2 duplication. World Journal of Biological Psychiatry 8 (2007) 127-130
35. Ozgen H.M., Hop J.W., Hox J.J., Beemer F.A., and van Engeland H. Minor physical anomalies in autism: A meta-analysis. Molecular Psychiatry (2008) 10.1038/mp.2008.75
36. Pagnamenta A.T., Wing K., Akha E.S., Knight S.J., Bölte S., Schmötzer G., et al. Molecular Genetic Study of Autism Consortium. A 15q13.3 microdeletion segregating with autism. European Journal of Human Genetics 17 (2009) 687-692
37. Portnoï M.F. Microduplication 22q11.2: A new chromosomal syndrome. European Journal of Medical Genetics 52 (2009) 88-93
38. Potocki L., Bi W., Treadwell-Deering D., Carvalho C.M., Eifert A., Friedman E.M., et al. Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype. American Journal of Human Genetics 80 (2007) 633-649
39. Qiao Y., Riendeau N., Koochek M., Liu X., Harvard C., Hildebrand M.J., et al. Phenomic determinants of genomic variation in autism spectrum disorders. Journal of Medical Genetics (2009) 10.1136/jmg.2009.066795
40. Ramelli G.P., Silacci C., Ferrarini A., Cattaneo C., Visconti P., and Pescia G. Microduplication 22q11.2 in a child with autism spectrum disorder: Clinical and genetic study. Developmental Medicine and Child Neurology 50 (2008) 953-955
41. Sebat J., Lakshmi B., Malhotra D., Troge J., Lese-Martin C., Walsh T., et al. Strong association of de novo copy number mutations with autism. Science 316 (2007) 445-449
42. Sharp A.J., Mefford H.C., Li K., Baker C., Skinner C., Stevenson R.E., et al. A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures. Nature Genetics 40 (2008) 322-328
43. Suzuki G., Harper K.M., Hiramoto T., Funke B., Lee M., Kang G., et al. Over-expression of a human chromosome 22q11.2 segment including TXNRD2, COMT, and ARVCF developmentally affects incentive learning and working memory in mice. Human Molecular Genetics 18 (2009) 3914-3925
44. Suzuki G., Harper K.M., Hiramoto T., Sawamura T., Lee M., Kang G., et al. Sept5 deficiency exerts pleiotropic influence on affective behaviors and cognitive functions in mice. Human Molecular Genetics 18 (2009) 1652-1660
45. Wassink T.H., Piven J., Vieland V.J., Jenkins L., Frantz R., Bartlett C.W., et al. Evaluation of the chromosome 2q37.3 gene CENTG2 as an autism susceptibility gene. American Journal of Medical Genetics B 136 (2005) 36-44
46. Waters S.T., and Lewandoski M. A threshold requirement for Gbx2 levels in hindbrain development. Development 133 (2006) 1991-2000
47. Weiss L.A., Shen Y., Korn J.M., Arking D.E., Miller D.T., Fossdal R., et al. Association between microdeletion and microduplication at 16p11.2 and autism. New England Journal of Medicine 358 (2008) 667-675
48. Willatt L., Cox J., Barber J., Cabanas E.D., Collins A., Donnai D., et al. 3q29 microdeletion syndrome: Clinical and molecular characterization of a new syndrome. American Journal of Human Genetics 77 (2005) 154-160
49. Yashiro K., Riday T.T., Condon K.H., Roberts A.C., Bernardo D.R., Prakash R., et al. Ube3a is required for experience-dependent maturation of the neocortex. Nature Neuroscience 12 (2009) 777-783