Structural variations of the genome in autistic spectrum disorders with intellectual disability

Zhurnal Nevrologii i Psihiatrii imeni S.S. Korsakova

Volumn 116, Issue 7, 2016, Pages 50-54

  Iourov, I Yu ^a,b,c   Vorsanova, S G ^a,b,d   Korostelev, S A ^e   Vasin, K S ^a,b,d   Zelenova, M A ^a,b,d   Kurinnaia, O S ^a,b,d   Yurov, Yu B ^a,b,d  

^a MENTAL HEALTH RESEARCH CENTER   (Russian Federation)

^b PIROGOV RUSSIAN NATIONAL RESEARCH MEDICAL UNIVERSITY   (Russian Federation)

^c the Department of medical statistics and informatics of Russian Medical Academy of Postgraduate Education   (Russian Federation)

^d MOSCOW STATE UNIVERSITY OF PSYCHOLOGY AND EDUCATION   (Russian Federation)

^e RESEARCH CENTRE FOR MEDICAL GENETICS   (Russian Federation)

Author keywords

Autistic spectrum disorders; Bioinformatic analysis; Candidate genes; Chromosomes; Genomic variations; Intellectual disability; Molecular karyotyping

Indexed keywords

ARTICLE; AUTISM; CHILD; CHROMOSOME ABERRATION; CHROMOSOME MOSAICISM; COPY NUMBER VARIATION; GENETIC VARIATION; HUMAN; INTELLECTUAL IMPAIRMENT; KARYOTYPING; MAJOR CLINICAL STUDY; PHENOTYPE; PLEIOTROPY; SEX CHROMOSOME ABERRATION; GENETICS; HUMAN GENOME; RUSSIAN FEDERATION;

AUTISTIC DISORDER; CHILD; CHROMOSOME ABERRATIONS; DNA COPY NUMBER VARIATIONS; GENOME, HUMAN; HUMANS; INTELLECTUAL DISABILITY; KARYOTYPING; PHENOTYPE; RUSSIA;

EID: 84989170483     PISSN: 19977298     EISSN: 23094729     Source Type: Journal    
DOI: 10.17116/jnevro20161167150-54     Document Type: Article

References (29)

1. Nazeer A, Ghaziuddin M. Autism spectrum disorders: clinical features and diagnosis. Pediatric Clinics of North America. 2012; 59(1): 19-25. doi: 10.1016/j.pcl.2011.10.007
2. Gillberg C. Chromosomal disorders and autism. Journal of Autism and Development Disorders. 1998; 28(5): 415-425. doi: 10.1023/A: 1026004505764
3. Vorstman JA, Staal WG, van Daalen E, van Engeland H, Hochstenbach PF, Franke L. Identification of novel autism candidate regions through analysis of reported cytogenetic abnormalities associated with autism. Molecular Psychiatry. 2006; 11(1): 18-28. doi: 10.1038/sj.mp.4001757
4. Yurov YB, Vorsanova SG, Iourov IY, Demidova IA, Beresheva AK, Kravetz VS, Monakhov VV, Kolotii AD, Voinova-Ulas VY, Gorbachevskaya NL. Unexplained autism is frequently associated with low-level mosaic aneuploidy. Journal of Medical Genetics. 2007; 44(8): 521-525. doi: 10.1136/jmg.2007.049312
5. Sebat J, Lakshmi B, Malhotra D, Troge J, Lese-Martin C, Walsh T, Yamrom B, Yoon S, Krasnitz A, Kendall J, Leotta A, Pai D, Zhang R, Lee YH, Hicks J, Spence SJ, Lee AT, Puura K, Lehtimäki T, Ledbetter D, Gregersen PK, Bregman J, Sutcliffe JS, Jobanputra V, Chung W, Warburton D, King MC, Skuse D, Geschwind DH, Gilliam TC, Ye K, Wigler M. Strong association of de novo copy number mutations with autism. Science. 2007; 316(5823): 445-449. doi: 10.1126/science.1138659
6. Cook EH Jr, Scherer SW. Copy-number variations associated with neuropsychiatric conditions. Nature. 2008; 455(7215): 919-923. doi: 10.1038/nature07458
7. Malhotra D, Sebat J. CNVs: harbingers of a rare variant revolution in psychiatric genetics. Cell. 2012; 148(6): 1223-1241. doi: 10.1016/j.cell.2012.02.039
8. Betancur C. Etiological heterogeneity in autism spectrum disorders: more than 100 genetic and genomic disorders and still counting. Brain Research. 2011; 1380: 42-77. doi: 10.1016/j.brainres.2010.11.078
9. Vorsanova SG, Iourov IYu, Demidova IA, Voinova-Ulas VYu, Kravets VS, Solov’ev IV, Gorbachevskaya NL, Yurov YuB. Variability in the heterochromatin regions of the chromosomes and chromosomal anomalies in children with autism: identification of genetic markers of autistic spectrum disorders. Neuroscience and Behavioral Physiology. 2007; 37(6): 553-558. doi: 10.1007/s11055-007-0052-1
10. Willsey AJ, State MW. Autism spectrum disorders: from genes to neurobiology. Current Opinion in Neurobiology. 2015; 30: 92-99. doi: 10.1016/j.conb.2014.10.015
11. Iourov IY, Vorsanova SG, Yurov YB. Chromosomal variation in mammalian neuronal cells: known facts and attractive hypotheses. International Review of Cytology. 2006; 249: 143-191. doi: 10.1016/s0074-7696(06)49003-3
12. Cooper GM, Coe BP, Girirajan S, Rosenfeld JA, Vu TH, Baker C, Williams C, Stalker H, Hamid R, Hannig V, Abdel-Hamid H, Bader P, McCracken E, Niyazov D, Leppig K, Thiese H, Hummel M, Alexander N, Gorski J, Kussmann J, Shashi V, Johnson K, Rehder C, Ballif BC, Shaffer LG, Eichler EE. A copy number variation morbidity map of developmental delay. Nature Genetics. 2011; 43(9): 838-846. doi: 10.1038/ng.909
13. Poultney CS, Goldberg AP, Drapeau E, Kou Y, Harony-Nicolas H, Kajiwara Y, De Rubeis S, Durand S, Stevens C, Rehnström K, Palotie A, Daly MJ, Ma’ayan A, Fromer M, Buxbaum JD. Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder. The American Journal of Human. Genetics. 2013; 93(4): 607-619. doi: 10.1016/j.ajhg.2013.09.001
14. Kloosterman WP, Hochstenbach R. Deciphering the pathogenic consequences of chromosomal aberrations in human genetic disease. Molecular Cytogenetics. 2014; 7: 100. doi: 10.1186/s13039-014-0100-9
15. Iourov IY, Vorsanova SG, Kurinnaia OS, Zelenova MA, Silvanovich AP, Yurov YB. Molecular karyotyping by array CGH in a Russian cohort of children with intellectual disability, autism, epilepsy, and congenital anomalies. Molecular Cytogenetics. 2012: 5: 46. doi: 10.1186/1755-8166-5-46
16. Wang BT, Chong TP, Boyar FZ, Kopita KA, Ross LP, El-Naggar MM, Sahoo T, Wang JC, Hemmat M, Haddadin MH, Owen R, Anguiano AL. Abnormalities in spontaneous abortions detected by G-banding and chromosomal microarray analysis (CMA) at a national reference laboratory. Molecular Cytogenetics. 2014; 7: 33. doi: 10.1186/1755-8166-7-33
17. Iourov IY, Vorsanova SG, Yurov YB. In silico molecular cytogenetics: a bioinformatic approach to prioritization of candidate genes and copy number variations for basic and clinical genome research. Molecular Cytogenetics. 2014; 7: 98. doi: 10.1186/s13039-014-0098-z
18. Roberts JL, Hovanes K, Dasouki M, Manzardo AM, Butler MG. Chromosomal microarray analysis of consecutive individuals with autism spectrum disorders or learning disability presenting for genetic services. Gene. 2014; 535(1): 70-78. doi: 10.1016/j.gene.2013.10.020
19. Mefford HC, Batshaw ML, Hoffman EP. Genomics, intellectual disability, and autism. The New England Journal of Medicine. 2012; 366(8): 733-743. doi: 10.1056/NEJMra1114194
20. Xu F, Li L, Schulz VP, Gallagher PG, Xiang B, Zhao H., Li P. Cytogenomic mapping and bioinformatic mining reveal interacting brain expressed genes for intellectual disability. Molecular Cytogenetics. 2014; 7: 4. doi: 10.1186/1755-8166-7-4
21. Iourov IY, Vorsanova SG, Yurov YB. Somatic genome variations in health and disease. Current Genomics. 2010; 11(6): 387-396. doi: 10.2174/138920210793176065
22. Levy D, Ronemus M, Yamrom B, Lee YH, Leotta A, Kendall J, Marks S, Lakshmi B, Pai D, Ye K, Buja A, Krieger A, Yoon S, Troge J, Rodgers L, Iossifov I, Wigler M. Rare de novo and transmitted copy-number variation in autistic spectrum disorders. Neuron. 2011; 70(5): 896-897. doi: 10.1016/j.neuron.2011.05.015
23. Lupski JR. Cognitive phenotypes and genomic copy number variations. JAMA. 2015; 313(20): 2029-2030. doi: 10.1001/jama.2015.4846
24. Srivastava AK, Schwartz CE. Intellectual disability and autism spectrum disorders: causal genes and molecular mechanisms. Neuroscience & Biobehavioral Reviews. 2014; 46(2): 161-174. doi: 10.1016/j.neubiorev.2014.02.015
25. Vorsanova SG, Yurov YB, Soloviev IV, Iourov IY. Molecular cytogenetic diagnosis and somatic genome variations. Current Genomics. 2010; 11(6): 440-446. doi: 10.2174/138920210793176010
26. Zhang Y, Haraksingh R, Grubert F, Abyzov A, Gerstein M, Weissman S, Urban AE. Child development and structural variation in the human genome. Child Development. 2013; 84(1): 34-48. doi: 10.1111/cdev.12051
27. Horne SD, Chowdhury SK, Heng HH. Stress, genomic adaptation, and the evolutionary trade-off. Frontiers in Genetics. 2014; 5: 92. doi: 10.3389/fgene.2014.00092
28. Brandler WM, Sebat J. From de novo mutations to personalized therapeutic interventions in autism. The AnnualReview of Medicine. 2015; 66: 487-507. doi: 10.1146/annurev-med-091113-024550
29. Iourov IY, Vorsanova SG, Voinova VY, Yurov YB. 3p22.1p21.31 microdeletion identifies CCK as Asperger syndrome candidate gene and shows the way for therapeutic strategies in chromosome imbalances. Molecular Cytogenetics. 2015; 8: 82. doi: 10.1186/s13039-015-0185-9