Preview

Русский журнал детской неврологии

Расширенный поиск

ГЕНЕТИКА АУТИЗМА (ОБЗОР ЗАРУБЕЖНОЙ ЛИТЕРАТУРЫ)

https://doi.org/10.17650/2073-8803-2013-8-3-31-45

Полный текст:

Аннотация

Аутизм может встречаться при хромосомных и генетических синдромах, пороках развития головного мозга, болезнях обмена и др. В связи с этим в настоящее время принят термин «атипичный» или «синдромальный» аутизм – аутизм, являющийся одним из симптомов другого заболевания. Генетические и хромосомные причины составляют 25-50% случаев аутизма. Авторы представили подробный обзор литературы, посвященный генетическим аспектам аутизма. В статье рассматриваются известные наследственные заболевания, проявляющиеся аутизмом, классификации генов-кандидатов аутизма, теории патогенеза аутизма, подходы к диагностике, а также проблемы, связанные с генетическим консультированием при диагностике аутизма.

Об авторах

М. Ю. Бобылова
Институт детской неврологии и эпилепсии им. Святителя Луки, Москва
Россия


Н. Л. Печатникова
Российская детская клиническая больница; кафедра неврологии, нейрохирургии и медицинской генетики педиатрического факультета РНИМУ, Москва
Россия


Список литературы

1. Alarcon M., Cantor R.M., Liu C. et al. The Autism Genetic Resource Exchange Consortium & Geschwind, D.H. Evidence for a language quantitative trait locus on chromosome 7q in multiplex autism families // American Journal of Human Genetics. – 2002. – V. 70. – P. 60-71.

2. Alarcon M., Abrahams B., Stone S. et al. Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene // Am J Hum Genet. – 2008. – V. 82(1). – P. 150-159.

3. Antshel M., Aneja A., Strunge L. et al. Autistic spectrum disorders in velo-cardio facial syndrome (22q11.2 deletion) // Journal of Autism and Developmental Disorders. – 2007. – V. 37. – P. 1776-1786.

4. Asato M.R., Hardan A.Y. Neuropsychiatric problems in tuberous sclerosis complex // Journal of Child Neurology. – 2004. – V. 19. – P. 241-249.

5. Bailey A., Le Couteur A., Gottesman I. et al. Autism as a strongly genetic disorder: evidence from a British twin study // Psychol Med. – 1995. V. 25(1). – P. 63-77.

6. Bailey A., Luthert P., Dean A. et al. A clinicopathological study of autism // Brain. – 1998. – V. 121 (5). – P. 889-905.

7. Bassell G.J. and Warren S.T. Fragile X Syndrome: Loss of Local mRNA Regulation Alters Synaptic Development and Function // Neuron. – 2008. – V. 60. – P. 201-214.

8. Baron-Cohen S., Scott F.J., Allison C. Prevalence of Autism-Spectrum Conditions: UK School-Based Population Study // Br J Psychiatry. – 2009. – V. 194. – P. 500-509.

9. Bauman, M. Kemper T. L. Histoanatomic observations of the brain in early infantile autism // Neurology. – 1985. – V. 35(6). – P. 866-74.

10. Beard E. & Braissant O. Synthesis and transport of creatine in the CNS: importance for cerebral functions // Journal of Neurochemistry. – 2010. – V. 115. – P. 297-313.

11. Bedogni F., Hodge R.D., Nelson B.R. Autism susceptibility candidate 2 (Auts2) encodes a nuclear protein expressed in developing brain regions implicated in autism neuropathology // Gene Expr Patterns. – 2010. – V. 10. – P. 9-15.

12. Ben Zeev B., Bebbington A., Ho G. et al. The common BDNF polymorphism may be a modifier of disease severity in Rett syndrome // American Academy of Neurology. – 2009. – V. 72. – P. 1242-1247.

13. Bhalla K., Luo Y., Buchan T. et al. Alterations in CDH15 and KIRREL3 in Patients with Mild to Severe Intellectual Disability // Am J Hum Genet. – 2008. – V. 83. – P. 703-713.

14. Boddaert N., Zilbovicius M., Philipe A., et al. MRI findings in 77 children with non-syndromic autistic disorder // PLoS One. – 2009. – V. 4. – e4415.

15. Bolte S., Dziobek I., & Poustka F. Brief report: The level and nature of autistic intelligence revisited // J Autism Dev Disord. – 2009. – V. 39(4). – P. 678-682.

16. Bourgeois J.A., Coffey S.M., Rivera S.M. et al. A review of fragile X premutation disorders: expanding the psychiatric perspective // Journal of Clinical Psychiatry. – 2009. – 70. – P. 852-862.

17. Bourgeron T. A synaptic trek to autism // Curr Opin Neurobiol. – 2009. – V. 19. – P. 231-234.

18. Bremer A. Copy number variation characteristics in subpopulations of patients with autism spectrum disorders // American Journal of Human Genetics Part B Neuropsychiatric Genetics. – 2011. – V. 156 (2). – P. 115-124.

19. Brkanac Z., Raskind W.H., Kin B.H. Pharmacology and genetics of autism: implications for diagnosis and treatment // NIH Public Access. – 2008. – V. 5. – P. 599-607.

20. Cantor R.M., Yoon J.L., Furr J., Lajonchere C.M. Paternal age and autism are associated in a family-based sample // Mol Psychiatry. – 2007. – V. 12(5). – P. 419-21.

21. Carney R.M., Wolpert C.M., Ravan S.A et al. Identification of MeCP2 mutations in a series of females with autistic disorder // Pediatr Neurol. – 2003. – V. 28(3). – P. 205-211.

22. Chelly J., Khelfaoui M., Francis F. et al. Genetics and Pathophysiology of Mental Retardation // Eur J Hum Genet. – 2006. – V. 14. – V. 701-713.

23. Cheng Y., Sudarov A., Szulc et al. The Engrailed homeobox genes determine the different foliation patterns in the vermis and hemispheres of the mammalian cerebellum // Development. – 2010. – V. 137(3). – P. 519-529.

24. Clarke D.F., Roberts W., Daraksan M. The Prevalence of Autistic Spectrum Disorder in Children Surveyed in a Tertiary Care Epilepsy Clinic // Epilepsia. – 2005. – V. 46. – P. 1970-1977.

25. Croen L.A., Najjar D.V., Fireman B., Grether J.K. Maternal and paternal age and risk of autism spectrum disorders // Arch Pediatr Adolesc Med. – 2007. – V. 161(4). – P. 334-40.

26. Danielsson S., Gillberg I.C., Billstedt E. et al. Epilepsy in young adults with autism: a prospective population-based follow-up study of 120 individuals diagnosed in childhood // Epilepsia. – 2005. – V. 46(6). – P. 918-923.

27. Durand C.M., Betancur C., Boeckers T.M., Bockmann J. Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders // Nat Genet. – 2007. – V. 39(1). – P. 25-27.

28. Eagleson K.L., Campbell D.B., Thompson B.L. et al. The autism risk genes MET and PLAUR differentially impact cortical development // Autism Res. – 2011. – V. 4(1). – P. 68-83.

29. El-Fishawy P., State M.W. The genetics of autism: key issues, recent findings and clinical implications // The Psychiatric Clinics of North America. – 2010. – V. 33. – P. 83-105.

30. Falk R.E., Casas K.A. Chromosome 2q37 deletion: clinical and molecular aspects // American Journal of Medical Genetics. – 2007. – V. 145. – P. 357-371.

31. Fatemi S.H., Reutiman T.J., Folsom T.D. MRNA and Protein Levels for GABA Aalpha4, alpha5, beta1 and GABABR1 Receptors are Altered in Brains from Subjects with Autism // J Autism Dev Disord. – 2010. – V. 40. –P. 743-750.

32. Fedulov V., Rex C.S., Simmons D.A. et al. Evidence that Long-Term Potentiation Occurs within Individual Hippocampal Synapses during Learning // J Neurosci. – 2007. – V. 27. – P. 8031-8039.

33. Fernandez B.A., Roberts W., Chung B. et al. Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder // Journal of Medical Genetics. – 2010. – V. 47. – P. 195-203.

34. Franke P., Leboyer M., Gansicke M. et al. Genotype-phenotype relationship in female carriers of the permutation and full mutation of FMR-1 // Psychiatry Research. – 1998. – V. 80. – P. 113-127.

35. Freitag C.M., Staal W., Klauck S.M. et al. Genetics of autistic disorders: review and clinical implications // European Child & Adolescent Psychiatry. – 2010. – V. 19. – P. 169-178.

36. Gardoni F. MAGUK Proteins: New Targets for Pharmacological Intervention in the Glutamatergic Synapse // Eur J Pharmacol. – 2008. – V. 585. – P. 147-152.

37. Gepner B., Feron F. Autism: a world changing too fast for a mis-wired brain? // Neurosci Biobehav Rev. – 2009. –V. 33(8). – P. 1227-1242.

38. Graf E.R., Daniels R.W., Burgess R.W. Rab3 Dynamically Controls Protein Composition at Active Zones // Neuron. – 2009. – V. 64. – P. 663-677.

39. Guilmatre A., Dubourg C., Mosca et al. Recurrent rearrangements in synaptic and neurodevelopment genes and shared biologic pathways in schizophrenia, autism, and mental retardation // Archives of General Psychiatry. – 2009. – V. 66. – P. 947-956.

40. Green, J.J., Hollander E. Autism and ocytocin: new developments in translational approaches to therapeutics // Neurotherapeutics. – 2010. – V. 7. – P. 250-257.

41. Gregory S.G., Connelly J.J., Towers A.J. et al. Genomic and epigenetic evidence for oxytocin receptor deficiency in autism // BMC Med. – 2009. – V. 22. – P. 62.

42. Hagerman R.J. Fragile X syndrome. In S.B. Cassidy & J.E. Allanson (eds.) Management of Genetic Syndromes, 2005. – pp. 251-263.

43. Hamdan F.F., Gauthier J., Araki Y., et al Excess of De Novo Deleterious Mutations in Genes Associated with Glutamatergic Systems in Nonsyndromic Intellectual Disability // Am J Hum Genet. – 2011. – V. 88. – P. 306-316.

44. Hayashi M.K., Tang C., Verpelli C., Narayanan R., The Postsynaptic Density Proteins Homer and Shank Form a Polymeric Network Structure // Cell. – 2009. – V. 137. – P. 159-171.

45. Hessl D., Rivera S.M., Reiss, A.L. The neuroanatomy and neuroendocrinology of fragile X syndrome // Mental Retardation and Developmental Disabilities Research Reviews. – 2004. – V. 10. – P. 17-24.

46. Hogart A., Wu D., LaSalle J.M., Schanen M.C. The comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13 // Neurobiology of Disease. – 2010. – V. 38. – P. 181-191.

47. Hughes J.R., Melyn M. EEG and Seizures in Autistic Children and Adolescents: Further Findings with Therapeutic Implications // Clin EEG Neurosci. – 2005. – V. 36. – P. 15-20.

48. Hutsler, J.J., Zhang H. Increased dendritic spine densities on cortical projection neurons in autism spectrum disorders // Brain Res. – 2009. – V. 1309. – P. 83-94.

49. Hynes K., Tarpey P., Dibbens L.M., et al. Epilepsy and Mental Retardation Limited to Females with PCDH19 Mutations can Present De Novo Or in Single Generation Families // J Med Genet. – 2010. – V. 47(3). – P. 211-6.

50. Insel T.R. The challenge of translation in social neuroscience: a review of oxytocin, vasopressin and affiliative behavior // Neuron. – 2010. – V. 65. – P. 768-779.

51. Kaufman L., Ayub M., Vincent J.B. The Genetic Basis of Non-Syndromic Intellectual Disability: A Review // J Neurodev Disord. – 2010. – V. 2. – P. 182-209.

52. Kim H.G., S. Kishikawa A.W. Higgins et al. Disruption of neurexin 1 associated with autism spectrum disorder // Am J Hum Genet. – 2008. – V. 82(1). – P. 199-207.

53. Kogan M.D., Blumberg S.J., Schieve L.A. Prevalence of Parent-Reported Diagnosis of Autism Spectrum Disorder among Children in the US, 2007 // Pediatrics. – 2009. – V. 124. – P. 1395-1403.

54. Kumar R.A., Christian S.L. Genetics of autism spectrum disorders // Current Neurology and Neuroscience Reports. – 2009. – V. 9. – P. 188-197.

55. Lee H.J., Macbeth A.H., Pagani J.H. et al. Oxytocin: The great facilitator of life // Progress in Neurobiology. – 2009. – V. 88. – P. 127-151.

56. Lichtenstein P., Carlstrom E., Rastam M. et al. The gentics of autism spectrum disorders and related neuropsy-chiatric disorders in childhood // American Journal of Psychiatry. – 2010. – V. 167. – P. 1357-1363.

57. Lintas C., Persico A.M. Autistic phenotypes and genetic testing: state-of-the-art for the clinical geneticist // Journal of Medical Genetics. – 2009. – V. 46. – P. 1-8.

58. Malaspina D., Reichenberg A., Weiser M., et al. Paternal age and intelligence: implications for age-related genomic changes in male germ cells // Psychiatr Genet. – 2005. – V. 15(2). – P. 117-125.

59. Manzi B., Loizzo A.L., Giana G., Curatolo, P. Autism and metabolic diseases // Journal of Child Neurology. – 2008. – V. 23. – P. 307-314.

60. Marco E.L., Skuse D.H. Autism-lessons from the X chromosome // Scan. – 2006. – V. 1. – P. 183-193.

61. Matijevic T., Knezevic J., Slavica M., Pavelic J. Rett Syndrome: from the gene to the disease // European Neurology. – 2009. – V. 61. – P. 3-10.

62. Matuszek G., Talebizadeh Z. Autism genetic database (AGD): a comprehensive database including autism susceptibility gene-CNV's integrated with known noncoding RNAs and fragile sites // BMC Medical Genetics. – 2009. – V. 10. – P. 102.

63. McBride K.L., Varga E.A., Pastore M.T., Confirmation Study of PTEN Mutations among Individuals with Autism Or Developmental delays/mental Retardation and Macrocephaly // Autism Res. – 2010. – V. 3. – P. 137-141.

64. Miller D.T. Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders // Journal of Medical Genetics. – 2009. – V. 46. – N. 4. – P. 242-248.

65. Miles J.H., Hadden L.L., Takahashi T.N., Hillman R.E. Head Circumference is an Independent Clinical Finding Associated with Autism // Am J Med Genet. – 2000. – V. 95. – P. 339-350.

66. Miles J.H., Hillman R.E. Value of a Clinical Morphology Examination in Autism // Am J Med Genet. – 2000. – V. 91. – P. 245-253.

67. Miles J.H., Takahashi T.N., Bagby S., Essential Versus Complex Autism: Definition of Fundamental Prognostic Subtypes // Am J Med Genet. – 2005. – V. 135. – P. 171-180.

68. Morrow E.M., Yoo S.Y., Flavell S.W. et al. Identifying autism loci and genes by tracing recent shared ancestry // Science. – 2008. – V. 321(5886). – P. 218-223.

69. Moessner R., Marshall C.R., Sutcliffe J.S. et al. Contribution of SHANK3 mutations to autism spectrum disorder // Am J Hum Genet. – 2007. – V. 81(6). – P. 1289-97.

70. Muhle R., Trentacoste S.V., Rapin I. The genetics of autism // Pediatrics. – 2004. – V. 113(5). – P. 472-486.

71. Nasrallah F., Feki M., Kaabachi N. Creatine and creatine deficiency syndromes: biochemical and clinical aspects // Pediatric Neurology. – 2010. – V. 42. – P. 163-171.

72. Niklasson L., Rasmussen P., Oskarsdottir S. Gillberg C. Autism, ADHD, mental retardation and behavior problems in 100 individuals with 22q11 deletion syndrome // Research in Developmental Disabilities. – 2009. – V. 30. – P. 763-773.

73. Noor A., Whibley A., Marshall C.R. et al. Disruption at the PTCHD1 Locus on Xp22.11 in Autism Spectrum Disorder and Intellectual Disability // Sci Transl Med. – 2010. – V. 2(49). – P. 49-68.

74. Pavlowsky A., Gianfelice A., Pallotto M., et al A Postsynaptic Signaling Pathway that may Account for the Cognitive Defect due to IL1RAPL1 Mutation // Curr Biol. – 2010. – V. 20. – P. 103-115.

75. Paylor R., Glaser B., Mupo A. et al. Tbx1 haploinsufficiency is linked to behavioral disorders in mice and humans: implications for 22q11 deletion syndrome // Proceedings of the National Academy of Sciences. – 2006. – V. 103. – P. 7729-7734.

76. Pinto D., Pagnamenta A.T., Klei L., et al Functional Impact of Global Rare Copy Number Variation in Autism Spectrum Disorders // Nature. – 2010. – V. 466(7304). – P. 368-72.

77. Piven J., Arndt S., Bailey J., Andreasen N. Regional brain enlargement in autism: a magnetic resonance imaging study // J Am Acad Child Adolesc Psychiatry. – 1996. – V. 35(4). – P. 530-6.

78. Puleo C.M., Reichenberg A., Smith C.J. et al. Do autism related personality traits explain higher paternal age in autism? // Mol Psychiatry. – 2008. – V. 13(3). – P. 243-4.

79. Rauch A., Hoyer J., Guth S. et al. Diagnostic Yield of various Genetic Approaches in Patients with Unexplained Developmental Delay Or Mental Retardation // Am J Med Genet A. – 2006. – V. 140. – P. 2063-2074.

80. Raymond G.V., Bauman M.L., Kemper T.L. Hippocampus in autism: a Golgi analysis // Acta Neuropathol. – 1996. – V. 91(1). – P. 117-9.

81. Redies C. Cadherins in the central nervous system // Prog Neurobiol. – 2000. – V. 61(6). – P. 611-648.

82. Rubenstein J.L., Merzenich M.M. Model of autism: increased ratio of excitation/inhibition in key neural systems // Genes, Brain & Behavior. – 2003. – V. 2(5). – P. 255-267.

83. Rujescu D., Ingason A., Cichon S. et al. Disruption of the neurexin 1 gene is associated with schizophrenia // Hum Mol Genet. – 2009. – V. 18(5). – P. 988-96.

84. Salomons G.S., van Dooren S.J.M., Verhoeven N.M., et al. X-linked creatine transporter defect: an overview // Journal of Inherited Metabolic Disorders. – 2003. – V. 26. – P. 309-318.

85. Sebat J. Strong association of de novo copy number mutations with autism // Science. – 2007. – V. 316(5823). – P. 445-449.

86. Shprintzen R.J. Velo-cardio-facial syndrome: a distinctive behavioural phenotype // Mental Retardation and Developmental Disabilities. – 2000. – V. 6. – P. 142-147.

87. Steiner C.E., Guerreiro M.M., Marques-de-Faria A.P. Brief Report: Acrocallosal Syndrome and Autism // J Autism Dev Disord. – 2004. – V. 34. – P. 723-726.

88. Spence S.J., Schneider M.T. The Role of Epilepsy and Epileptiform EEGs in Autism Spectrum Disorders // Pediatr Res. – 2009. – V. 65. – P. 599-606.

89. Stromme P., Mangelsdorf M.E., Scheffer I.E., Gecz J. Infantile Spasms, Dystonia, and other X-Linked Phenotypes Caused by Mutations in Aristaless Related Homeobox Gene, ARX // Brain Dev. – 2002. – V. 24. – P. 266-268.

90. Tuchman R. and Rapin I. Epilepsy in Autism // Lancet Neurol. – 2002. – V. 1. – P. 352-358.

91. Verhoeven W.M.A., Tuinier S., van der Burgt I. Top-down or bottom-up: contrasting perspectives on psychiatric diagnoses // Biologics: Targets & Therapy. – 2008. – V. 2. – P. 409-417.

92. Verhoeven W.M.A., Csepan R., Marcelis C. et al. Sanfilippo B in an elderly female psychiatric patient: a rare but relevant diagnosis in presenile dementia // Acta Psychiatrica Scandinavica. – 2010. – V. 122. – P. 162-165.

93. Vernes S.C., Newbury D.F., Abrahams B.S. et al. A functional genetic link between distinct developmental language disorders // N Engl J Med. – 2008. – V. 359(22). – P. 2337-2345.

94. Vogels A., Verhoeven W.M.A., Tuinier S. et al. The psychopathological phenotype of velo-cardio-facial syndrome // Annales de Genetique. – 2002. – V. 45. – P. 89-95.

95. Volkmar F.R., Szatmari P., Sparrow S.S. Sex Differences in Pervasive Developmental Disorders // J Autism Dev Disord. – 1993. – V. 23. – P. 579-591.

96. Vorstman J.A.S., Morcus M.E.J., Duijff S.N et al. The 22q11.2 deletion in children: high rate of autistic disorders and early onset of psychotic symptoms // Journal of American Academy of Child and Adolescent Psychiatry. – 2006. – V. 45. – P. 1104-1113.

97. Wang K., Zhang H., Ma D. et al. Common genetic variants on 5p14.1 associate with autism spectrum disorders // Nature. – 2009. – V. 459(7246). – P. 528-533.

98. Weiss L.A., Arking D.E., The Gene discovery Project of Johns Hopkins & The Autism Consortium. A genome-wide linkage and association scan reveals novel loci for autism // Nature. – 2009. – V. 461. – P. 802-808.

99. Weissman J.R., Kelley R.I., Bauman M.L. et al. Mitochoncrial disease in autism spectrum disorder patients: a cohort analysis // Plos One. – 2008. – V 3. – e3815.

100. Wiznitzer M. Autism and tuberous sclerosis // Journal of Child Neurology. – 2004. – V. 19. – P. 675-679.

101. Zecavati N., Spence S.J. Neurometabolic disorders and dysfunction in autism spectrum disorders // Current Neurology and Neuroscience Reports. – 2009. – V. 9. – P. 129-136.

102. Zoghbi H.Y., Warren S.T. Neurogenetics: advancing the "next-generation" of brain research // Neuron. – 2010. – V. 68(2). – P. 165-73.


Для цитирования:


Бобылова М.Ю., Печатникова Н.Л. ГЕНЕТИКА АУТИЗМА (ОБЗОР ЗАРУБЕЖНОЙ ЛИТЕРАТУРЫ). Русский журнал детской неврологии. 2013;8(3):31-45. https://doi.org/10.17650/2073-8803-2013-8-3-31-45

For citation:


Bobylova M.Y., Petchatnikova H.L. GENETICS OF AUTISTIC DISORDER (REVIEW OF FOREIGN LITERATURE). Russian Journal of Child Neurology. 2013;8(3):31-45. (In Russ.) https://doi.org/10.17650/2073-8803-2013-8-3-31-45

Просмотров: 642


Creative Commons License
Контент доступен под лицензией Creative Commons Attribution 4.0 License.


ISSN 2073-8803 (Print)
ISSN 2412-9178 (Online)