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<article article-type="research-article" dtd-version="1.3" xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" xml:lang="ru"><front><journal-meta><journal-id journal-id-type="publisher-id">medgen</journal-id><journal-title-group><journal-title xml:lang="ru">Медицинская генетика</journal-title><trans-title-group xml:lang="en"><trans-title>Medical Genetics</trans-title></trans-title-group></journal-title-group><issn pub-type="ppub">2073-7998</issn><publisher><publisher-name>Publishing House «Genius Media» LLC</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="doi">10.1234/XXXX-XXXX-2016-9-12-16</article-id><article-id custom-type="elpub" pub-id-type="custom">medgen-168</article-id><article-categories><subj-group subj-group-type="heading"><subject>Research Article</subject></subj-group><subj-group subj-group-type="section-heading" xml:lang="ru"><subject>НАУЧНЫЕ ОБЗОРЫ</subject></subj-group><subj-group subj-group-type="section-heading" xml:lang="en"><subject>REVIEW</subject></subj-group></article-categories><title-group><article-title>Генетические аспекты расстройств аутистического спектра</article-title><trans-title-group xml:lang="en"><trans-title></trans-title></trans-title-group></title-group><contrib-group><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Семенова</surname><given-names>Н. А.</given-names></name><name name-style="western" xml:lang="en"><surname>Semenova</surname><given-names>N. A.</given-names></name></name-alternatives><email xlink:type="simple">Semenova@med-gen.ru</email><xref ref-type="aff" rid="aff-1"/></contrib></contrib-group><aff-alternatives id="aff-1"><aff xml:lang="ru"><institution>Федеральное государственное бюджетное научное учреждение «Медико-генетический научный центр»</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Research Centre for Medical Genetics</institution><country>Russian Federation</country></aff></aff-alternatives><pub-date pub-type="collection"><year>2016</year></pub-date><pub-date pub-type="epub"><day>13</day><month>10</month><year>2016</year></pub-date><volume>15</volume><issue>9</issue><fpage>12</fpage><lpage>16</lpage><permissions><copyright-statement>Copyright &amp;#x00A9; Семенова Н.А., 2016</copyright-statement><copyright-year>2016</copyright-year><copyright-holder xml:lang="ru">Семенова Н.А.</copyright-holder><copyright-holder xml:lang="en">Semenova N.A.</copyright-holder><license xml:lang="ru" license-type="creative-commons-attribution" xlink:href="https://creativecommons.org/licenses/by/4.0/" xlink:type="simple"><license-p>Данная работа распространяется под лицензией Creative Commons Attribution 4.0.</license-p></license><license xml:lang="en" license-type="creative-commons-attribution" xlink:href="https://creativecommons.org/licenses/by/4.0/" xlink:type="simple"><license-p>This work is licensed under a Creative Commons Attribution 4.0 License.</license-p></license></permissions><self-uri xlink:href="https://www.medgen-journal.ru/jour/article/view/168">https://www.medgen-journal.ru/jour/article/view/168</self-uri><abstract><p>Расстройства аутистического спектра (РАС) - это расстройство развития нервной системы, характеризующееся нарушением социального взаимодействия, коммуникации и стереотипным и повторяющимся поведением. Целью данного обзора является обобщение основных результатов исследований, проведенных в поиске генетических причин, а также раскрытия основных патогенетических механизмов развития аутизма.</p></abstract><trans-abstract xml:lang="en"><p>Autism spectrum disorder (ASD) is a developmental disorder of the nervous system characterized by impaired social interaction, communication and stereotypical and repetitive behavior. The aim of this review is to summarize the main results of research conducted in search for genetic causes as well as the disclosure of the major pathogenetic mechanisms of autism.</p></trans-abstract><kwd-group xml:lang="ru"><kwd>расстройства аутистического спектра</kwd><kwd>аутизм</kwd><kwd>генетика</kwd><kwd>autism spectrum disorders</kwd><kwd>autism</kwd><kwd>genetics</kwd></kwd-group></article-meta></front><back><ref-list><title>References</title><ref id="cit1"><label>1</label><citation-alternatives><mixed-citation xml:lang="ru">Kanner L. 1968. Autistic disturbances of affective contact. Acta Paedopsychiatr 35:100-136.</mixed-citation><mixed-citation xml:lang="en">Kanner L. 1968. Autistic disturbances of affective contact. Acta Paedopsychiatr 35:100-136.</mixed-citation></citation-alternatives></ref><ref id="cit2"><label>2</label><citation-alternatives><mixed-citation xml:lang="ru">American Psychiatric Association. Diagnostic and Statistical Manual of Mental Disorders. 5-th ed. Washington, DC: American Psychiatric Association; 2013</mixed-citation><mixed-citation xml:lang="en">American Psychiatric Association. Diagnostic and Statistical Manual of Mental Disorders. 5-th ed. Washington, DC: American Psychiatric Association; 2013</mixed-citation></citation-alternatives></ref><ref id="cit3"><label>3</label><citation-alternatives><mixed-citation xml:lang="ru">Российское общество психиатров. Расстройства аутистического спектра: диагностика, лечение, наблюдение. Клинические рекомендации (протокол лечения)- 2015. http// www: psychiatr.ru</mixed-citation><mixed-citation xml:lang="en">Российское общество психиатров. Расстройства аутистического спектра: диагностика, лечение, наблюдение. Клинические рекомендации (протокол лечения)- 2015. http// www: psychiatr.ru</mixed-citation></citation-alternatives></ref><ref id="cit4"><label>4</label><citation-alternatives><mixed-citation xml:lang="ru">Chakrabarti S., Fombonne E. Pervasive developmental disorders in preschool children: confirmation of high prevalence. Am J Psychiatry. 2005;162:1133-1141.</mixed-citation><mixed-citation xml:lang="en">Chakrabarti S., Fombonne E. Pervasive developmental disorders in preschool children: confirmation of high prevalence. Am J Psychiatry. 2005;162:1133-1141.</mixed-citation></citation-alternatives></ref><ref id="cit5"><label>5</label><citation-alternatives><mixed-citation xml:lang="ru">Pauline Chaste, Marion Leboyer. Autism risk factors: genes, environment, and gene-environment interactions. Dialogues Clin Neurosci. 2012 Sep; 14(3): 281-292.</mixed-citation><mixed-citation xml:lang="en">Pauline Chaste, Marion Leboyer. Autism risk factors: genes, environment, and gene-environment interactions. Dialogues Clin Neurosci. 2012 Sep; 14(3): 281-292.</mixed-citation></citation-alternatives></ref><ref id="cit6"><label>6</label><citation-alternatives><mixed-citation xml:lang="ru">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.</mixed-citation><mixed-citation xml:lang="en">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.</mixed-citation></citation-alternatives></ref><ref id="cit7"><label>7</label><citation-alternatives><mixed-citation xml:lang="ru">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.</mixed-citation><mixed-citation xml:lang="en">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.</mixed-citation></citation-alternatives></ref><ref id="cit8"><label>8</label><citation-alternatives><mixed-citation xml:lang="ru">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.</mixed-citation><mixed-citation xml:lang="en">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.</mixed-citation></citation-alternatives></ref><ref id="cit9"><label>9</label><citation-alternatives><mixed-citation xml:lang="ru">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.</mixed-citation><mixed-citation xml:lang="en">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.</mixed-citation></citation-alternatives></ref><ref id="cit10"><label>10</label><citation-alternatives><mixed-citation xml:lang="ru">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.</mixed-citation><mixed-citation xml:lang="en">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.</mixed-citation></citation-alternatives></ref><ref id="cit11"><label>11</label><citation-alternatives><mixed-citation xml:lang="ru">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.</mixed-citation><mixed-citation xml:lang="en">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.</mixed-citation></citation-alternatives></ref><ref id="cit12"><label>12</label><citation-alternatives><mixed-citation xml:lang="ru">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.</mixed-citation><mixed-citation xml:lang="en">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.</mixed-citation></citation-alternatives></ref><ref id="cit13"><label>13</label><citation-alternatives><mixed-citation xml:lang="ru">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.</mixed-citation><mixed-citation xml:lang="en">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.</mixed-citation></citation-alternatives></ref><ref id="cit14"><label>14</label><citation-alternatives><mixed-citation xml:lang="ru">Xu J, Zwaigenbaum L, Szatmari P et al. Molecular cytogenetics of autism. Curr Genomics 2004: 5: 347-364.</mixed-citation><mixed-citation xml:lang="en">Xu J, Zwaigenbaum L, Szatmari P et al. Molecular cytogenetics of autism. Curr Genomics 2004: 5: 347-364.</mixed-citation></citation-alternatives></ref><ref id="cit15"><label>15</label><citation-alternatives><mixed-citation xml:lang="ru">Feuk L, Carson AR, Scherer SW. Structural variation in the human genome. Nat Rev Genet 2006: 7: 85-97.</mixed-citation><mixed-citation xml:lang="en">Feuk L, Carson AR, Scherer SW. Structural variation in the human genome. Nat Rev Genet 2006: 7: 85-97.</mixed-citation></citation-alternatives></ref><ref id="cit16"><label>16</label><citation-alternatives><mixed-citation xml:lang="ru">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.</mixed-citation><mixed-citation xml:lang="en">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.</mixed-citation></citation-alternatives></ref><ref id="cit17"><label>17</label><citation-alternatives><mixed-citation xml:lang="ru">Berg JM, Geschwind DH. Autism genetics: searching for specificity and convergence. Genome Biol 2012: 13: 247.</mixed-citation><mixed-citation xml:lang="en">Berg JM, Geschwind DH. Autism genetics: searching for specificity and convergence. Genome Biol 2012: 13: 247.</mixed-citation></citation-alternatives></ref><ref id="cit18"><label>18</label><citation-alternatives><mixed-citation xml:lang="ru">Cristino AS, Williams SM, Hawi Z et al. Neurodevelopmental and neuropsychiatric disorders represent an interconnected molecular system. Mol Psychiatry 2014: 19: 294-301.</mixed-citation><mixed-citation xml:lang="en">Cristino AS, Williams SM, Hawi Z et al. Neurodevelopmental and neuropsychiatric disorders represent an interconnected molecular system. Mol Psychiatry 2014: 19: 294-301.</mixed-citation></citation-alternatives></ref><ref id="cit19"><label>19</label><citation-alternatives><mixed-citation xml:lang="ru">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.</mixed-citation><mixed-citation xml:lang="en">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.</mixed-citation></citation-alternatives></ref><ref id="cit20"><label>20</label><citation-alternatives><mixed-citation xml:lang="ru">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.</mixed-citation><mixed-citation xml:lang="en">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.</mixed-citation></citation-alternatives></ref><ref id="cit21"><label>21</label><citation-alternatives><mixed-citation xml:lang="ru">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. &amp; Betancur, C. (2009) Screening for genomic rearrangements and methylation abnormalities of the 15q11-q13 region in autism spectrum disorders. Biol Psychiatry 66, 349-359.</mixed-citation><mixed-citation xml:lang="en">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. &amp; Betancur, C. (2009) Screening for genomic rearrangements and methylation abnormalities of the 15q11-q13 region in autism spectrum disorders. Biol Psychiatry 66, 349-359.</mixed-citation></citation-alternatives></ref><ref id="cit22"><label>22</label><citation-alternatives><mixed-citation xml:lang="ru">Vorstman, J., Staal, W. G., VanDaalen, E., VanEngeland, H., Hochstenbach, P. F. R. &amp; Franke, L. (2005) Identification of novel autism candidate regions through analysis of reported cytogenetic abnormalities associated with autism. Mol Psychiatry 11, 18-28.</mixed-citation><mixed-citation xml:lang="en">Vorstman, J., Staal, W. G., VanDaalen, E., VanEngeland, H., Hochstenbach, P. F. R. &amp; Franke, L. (2005) Identification of novel autism candidate regions through analysis of reported cytogenetic abnormalities associated with autism. Mol Psychiatry 11, 18-28.</mixed-citation></citation-alternatives></ref><ref id="cit23"><label>23</label><citation-alternatives><mixed-citation xml:lang="ru">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</mixed-citation><mixed-citation xml:lang="en">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</mixed-citation></citation-alternatives></ref><ref id="cit24"><label>24</label><citation-alternatives><mixed-citation xml:lang="ru">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.</mixed-citation><mixed-citation xml:lang="en">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.</mixed-citation></citation-alternatives></ref><ref id="cit25"><label>25</label><citation-alternatives><mixed-citation xml:lang="ru">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</mixed-citation><mixed-citation xml:lang="en">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</mixed-citation></citation-alternatives></ref><ref id="cit26"><label>26</label><citation-alternatives><mixed-citation xml:lang="ru">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.</mixed-citation><mixed-citation xml:lang="en">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.</mixed-citation></citation-alternatives></ref><ref id="cit27"><label>27</label><citation-alternatives><mixed-citation xml:lang="ru">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.</mixed-citation><mixed-citation xml:lang="en">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.</mixed-citation></citation-alternatives></ref><ref id="cit28"><label>28</label><citation-alternatives><mixed-citation xml:lang="ru">Kim HG, et al. Disruption of neurexin 1 associated with autism spectrum disorder. Am. J. Hum. Genet. 2008;82:199-207.</mixed-citation><mixed-citation xml:lang="en">Kim HG, et al. Disruption of neurexin 1 associated with autism spectrum disorder. Am. J. Hum. Genet. 2008;82:199-207.</mixed-citation></citation-alternatives></ref><ref id="cit29"><label>29</label><citation-alternatives><mixed-citation xml:lang="ru">Roohi J, et al. Disruption of contactin 4 in three subjects with autism spectrum disorder. J. Med. Genet. 2008;46:176-182.</mixed-citation><mixed-citation xml:lang="en">Roohi J, et al. Disruption of contactin 4 in three subjects with autism spectrum disorder. J. Med. Genet. 2008;46:176-182.</mixed-citation></citation-alternatives></ref><ref id="cit30"><label>30</label><citation-alternatives><mixed-citation xml:lang="ru">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.</mixed-citation><mixed-citation xml:lang="en">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.</mixed-citation></citation-alternatives></ref><ref id="cit31"><label>31</label><citation-alternatives><mixed-citation xml:lang="ru">Pauline Chaste, Marion Leboyer et al. Autism risk factors: genes, environment, and gene-environment interactions. Dialogues Clin Neurosci. 2012 Sep; 14(3): 281-292.</mixed-citation><mixed-citation xml:lang="en">Pauline Chaste, Marion Leboyer et al. Autism risk factors: genes, environment, and gene-environment interactions. Dialogues Clin Neurosci. 2012 Sep; 14(3): 281-292.</mixed-citation></citation-alternatives></ref></ref-list><fn-group><fn fn-type="conflict"><p>The authors declare that there are no conflicts of interest present.</p></fn></fn-group></back></article>
