Генетические аспекты расстройств аутистического спектра
https://doi.org/10.1234/XXXX-XXXX-2016-9-12-16
Аннотация
Ключевые слова
Об авторе
Н. А. СеменоваРоссия
Список литературы
1. Kanner L. 1968. Autistic disturbances of affective contact. Acta Paedopsychiatr 35:100-136.
2. American Psychiatric Association. Diagnostic and Statistical Manual of Mental Disorders. 5-th ed. Washington, DC: American Psychiatric Association; 2013
3. Российское общество психиатров. Расстройства аутистического спектра: диагностика, лечение, наблюдение. Клинические рекомендации (протокол лечения)- 2015. http// www: psychiatr.ru
4. Chakrabarti S., Fombonne E. Pervasive developmental disorders in preschool children: confirmation of high prevalence. Am J Psychiatry. 2005;162:1133-1141.
5. Pauline Chaste, Marion Leboyer. Autism risk factors: genes, environment, and gene-environment interactions. Dialogues Clin Neurosci. 2012 Sep; 14(3): 281-292.
6. Ozonoff S, Young GS, Carter A et al. Recurrence risk for autism spectrum disorders: a Baby Siblings Research Consortium study. Pediatrics 2011: 128: e488-e495.
7. Posthuma D, Polderman TJ. What have we learned from recent twin studies about the etiology of neurodevelopmental disorders? Curr Opin Neurol 2013: 26: 111-121.
8. Rosenberg RE, Law JK, Yenokyan G, McGready J, Kaufmann WE, Law PA. 2009. Characteristics and concordance of autism spectrum disorders among 277 twin pairs. Arch Pediatr Adolesc Med 163(10):907-914.
9. Hallmayer J, Cleveland S, Torres A, Phillips J, Cohen B, Torigoe T, Miller J, Fedele A, Collins J, Smith K, Lotspeich L, Croen LA, Ozonoff S, Lajonchere C, Grether JK, Risch N. 2011. Genetic heritability and shared environmental factors among twin pairs with autism. Arch Gen Psychiatry 68(11):1095-1102.
10. 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. A genomic screen of autism: evidence for a multilocus etiology. Am J Hum Genet. 1999 Aug; 65(2):493-507.
11. Baird G, Simonoff E, Pickles A et al. Prevalence of disorders of the autism spectrum in a population cohort of children in South Thames: the Special Needs and Autism Project (SNAP). Lancet 2006: 368: 210-215.
12. Pinto D, Delaby E, Merico D et al. Convergence of genes and cellular pathways dysregulated in autism spectrum disorders. Am J Hum Genet 2014: 94: 677-694.
13. Liao HM, Gau SS, Tsai WC, Fang JS, Su YC, Chou MC, Liu SK, Chou WJ, Wu YY, Chen CH. 2013. Chromosomal abnormalities in patients with autism spectrum disorders from Taiwan. Am J Med Genet B Neuropsychiatr Genet 162B(7):734-741.
14. Xu J, Zwaigenbaum L, Szatmari P et al. Molecular cytogenetics of autism. Curr Genomics 2004: 5: 347-364.
15. Feuk L, Carson AR, Scherer SW. Structural variation in the human genome. Nat Rev Genet 2006: 7: 85-97.
16. Miller DT, Adam MP, Aradhya S et al. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet 2010: 86: 749-764.
17. Berg JM, Geschwind DH. Autism genetics: searching for specificity and convergence. Genome Biol 2012: 13: 247.
18. Cristino AS, Williams SM, Hawi Z et al. Neurodevelopmental and neuropsychiatric disorders represent an interconnected molecular system. Mol Psychiatry 2014: 19: 294-301.
19. Lina Yang et al. Autism spectrum disorder traits in Slc9a9 knock-out mice. American Journal of Medical Genetics Part B. Vol.171, Issue 3. 2016.P. 363-376.
20. Ashley J. Harrison et al. Genetic variation in the oxytocin receptor gene is associated with a social phenotype in autism spectrum disorders. American Journal of Medical Genetics Part B. Vol.168, Issue 8. 2015. P. 720-729.
21. Depienne, C., Moreno-De-Luca, D., Heron, D., Bouteiller, D., Gennetier, A., Delorme, R., Chaste, P., Siffroi, J.-P., Chantot-Bastaraud, S., Benyahia, B., Trouillard, O., Nygren, G., Kopp, S., Johansson, M., Rastam, M., Burglen, L., Leguern, E., Verloes, A., Leboyer, M., Brice, A., Gillberg, C. & Betancur, C. (2009) Screening for genomic rearrangements and methylation abnormalities of the 15q11-q13 region in autism spectrum disorders. Biol Psychiatry 66, 349-359.
22. Vorstman, J., Staal, W. G., VanDaalen, E., VanEngeland, H., Hochstenbach, P. F. R. & Franke, L. (2005) Identification of novel autism candidate regions through analysis of reported cytogenetic abnormalities associated with autism. Mol Psychiatry 11, 18-28.
23. V. Oikonomakis et al. Recurrent copy number variations as risk factors for autism spectrum disorders: analysis of the clinical implications. Clinical Genetics. Article first published online: 9 FEB 2016 | DOI: 10.1111/cge.12740
24. Iossifov I, O’Roak BJ, Sanders SJ et al. The contribution of de novo coding mutations to autism spectrum disorder. Nature 2014: 525 (7526): 216-221.
25. K.H. Utami. Clinical Genetics. The implications of de novo coding mutations in simplex autism families. Clin genetics. Vol. 87, Issue 5 May 2015:428-429
26. Michaelson JJ, Shi Y, Gujral M et al. Whole-genome sequencing in autism identifies hot spots for de novo germline mutation. Cell 2012: 151: 1431-1442.
27. Glessner JT, Wang K, Cai G, Korvatska O et al. 2009. Autism genome-wide copy number variation reveals ubiquitin and neuronal genes. Nature 459:569-573.
28. Kim HG, et al. Disruption of neurexin 1 associated with autism spectrum disorder. Am. J. Hum. Genet. 2008;82:199-207.
29. Roohi J, et al. Disruption of contactin 4 in three subjects with autism spectrum disorder. J. Med. Genet. 2008;46:176-182.
30. Fernandez T, et al. Disruption of Contactin 4 (CNTN4) results in developmental delay and other features of 3p deletion syndrome. Am. J. Hum. Genet. 2008;82:1385.
31. Pauline Chaste, Marion Leboyer et al. Autism risk factors: genes, environment, and gene-environment interactions. Dialogues Clin Neurosci. 2012 Sep; 14(3): 281-292.
Рецензия
Для цитирования:
Семенова Н.А. Генетические аспекты расстройств аутистического спектра. Медицинская генетика. 2016;15(9):12-16. https://doi.org/10.1234/XXXX-XXXX-2016-9-12-16