References

medgen

Медицинская генетика

Medical Genetics

2073-7998

Publishing House «Genius Media» LLC

10.25557/2073-7998.2021.02.3-20

medgen-1874

Research Article

НАУЧНЫЕ ОБЗОРЫ

REVIEW

Генетика умственной отсталости

Genetics of mental retardation

Анисимова

И. В.

Anisimova

I. V.

anisimova-inga@med-gen.ru

ФГБНУ «Медико-генетический научный центр имени академика Н.П. Бочкова»РоссияResearch Centre for Medical GeneticsRussian Federation

2021

25062021

202320

2021

Анисимова И.В.

Anisimova I.V.

Данная работа распространяется под лицензией Creative Commons Attribution 4.0.

This work is licensed under a Creative Commons Attribution 4.0 License.

https://www.medgen-journal.ru/jour/article/view/1874

Умственная отсталость (УО) встречается примерно у 1% населения. Нарушения интеллекта могут быть обусловлены различными этиологическими факторами. Около 40% случаев УО обусловлено генетическими причинами. Целями обзора являются отражение исторических этапов изучения природы нарушений интеллекта и оценка динамики эффективности диагностики генетических форм УО при внедрении современных методов исследований. Источники для обзора были отобраны в базах данных PubMed, Cochrane, Google Scholar и др. во временном интервале с 1972 по 2020 гг. Эффективность диагностики генетических форм УО за последние десятки лет возросла с 3,7% до 42%. Несмотря на совершенствование методов диагностики генетических форм нарушений интеллекта, в большинстве случаев этиология УО остается неясной.

Mental retardation (MR) is found in about 1% of the population. Intellectual disability can be caused by various etiological factors. About 40% of cases MR are associated with genetic factors. The review aims are reflection of historical stages of studying the nature of intellectual disability and evaluation of dynamics of diagnostic efficiency of genetic forms of MR with the introduction modern research methods. The sources for the review were collected in the databases PubMed, Cochrane, Google Scholar etc. in the period from 1943 to 2020. Diagnostic efficiency of MR has increased from 3,7% to 42% over the last decades. Despite the improvement of diagnostic methods of genetic forms of intellectual disability, the etiology of MR remains unclear in most cases.

умственная отсталостьнарушения интеллектараспространенностьхромосомный микроматричный анализсеквенирование нового поколениядиагностическая эффективность

mental retardationintellectual disabilityprevalencechromosomal microarray analysisnext generation sequencingdiagnostic efficiency

References1

American Psychiatric Association. Diagnostic and statistical manual of mental disorders, (5th ed.), Washington, 2013.

Leonard H., Wen X. The epidemiology of mental retardation: challenges and opportunities in the new millennium. Ment Retard Dev Disabil Res Rev. 2002;8(3):117-34.

Maulik P.K., Mascarenhas M.N., Mathers C.D. et al. Prevalence of intellectual disability: a meta-analysis of population-based studies. Res. Dev. Disabil. 2011;32:419-436.

Murthy R.S., Bertolote J.M., Epping-Jordan J.A. et al. The world health report. Mental health: new understanding, new hope. WHO. 2001;104.

Wen X. The deﬁnition and prevalence of intellectual disability in Australia. Canberra: Australian Institute of Health and Welfare, 1997.

Vissers L.E.L.M., Gilissen C., Veltman J.A. Genetic studies in intellectual disability and related disorders. Nat Rev Genet. 2016;17(1):9-18.

De Luca C., Race V., Keldermans L. et al. Challenges in molecular diagnosis of X-linked Intellectual disability. Br Med Bull. 2020;00:1-13.

Drews C.D., Yeargin-Allsopp M., Decouﬂe P., et al. Variation in the inﬂuence of selected sociodemographic risk factors for mental retardation. Am J Public Health. 1995;85:329-334.

Harris, J. C. Intellectual disability: Understanding its development, causes, classiﬁcation, evaluation, and treatment. New York: Oxford University Press. 2006;42-98.

King B.H., Toth K.E., Hodapp R. M. et al. Intellectual disability. Comprehensive textbook of psychiatry. Philadelphia: Lippincott Williams & Wilkins. 2009 (9th ed.);3444-3474.

Stromme P., Magnus P. Correlations between socioeconomic status, IQ and aetiology in mental retardation: a population-based study of Norwegian children. Soc Psychiatry Psychiatr Epidemiol. 2000;35:12-18.

Croen L.A., Grether J.K., Selvin S. 2001. The epidemiology of mental retardation of unknown cause. Pediatrics. 2001;107:E86.

Stromme P. Aetiology in severe and mild mental retardation: a population-based study of Norwegian children. Dev Med Child Neurol. 2000;42:76-86.

Tasman A., Kay J., Lieberman J.A. et al. Psychiatry (3rd ed.). John Wiley & Sons. 2008. 689-746.

Moeschler J.B., Shevell M. Committee on Genetics. Comprehensive evaluation of the child with intellectual disability or global and developmental delays. Pediatrics. 2014;134(3):e903-e918.

Puri R.D., Tuteja M., Verma I.C. Genetic Approach to Diagnosis of Intellectual Disability [published correction appears in Indian J Pediatr. 2017 Mar;84(3):256]. Indian J Pediatr. 2016;83(10):1141-1149.

Vickers R.R., Gibson J.S. A review of the genomic analysis of children presenting with developmental delay/intellectual disability and associated dysmorphic features. Cureus. 2019;11(1):e3873.

Miclea D., Peca L., Cuzmici Z. et al. Genetic testing in patients with global developmental delay/intellectual disabilities. A review. Clujul Med. 2015;88(3):288-292.

Ilyas M., Mir A., Efthymiou S. et al. The genetics of intellectual disability: advancing technology and gene editing. F1000Res. 2020;9:22.

Stevenson R.E., Procopio-Allen A.M., Schroer R.J. et al. Genetic syndromes among individuals with mental retardation. Am J Med Genet A. 2003;123A(1):29-32.

Huertas R. Between doctrine and clinical practice: nosography and semiology in the work of Jean-Etienne-Dominique Esquirol (1772-1840). Hist Psychiatry. 2008;19(74 Pt 2):123-140.

Гуровец Г.В. Психопатология детского возраста. Изд-во: Владос, 2008.- 359c.

Горюнов А.В., Лазарева И.И., Шевченко Ю.С. Г.Е. Сухарева: жизненный путь и научно-педагогическое наследие (к 125-летию со дня рождения). Журнал неврологии и психиатрии им. С.С. Корсакова. 2017;4;59-63.

Приказ Министерства здравоохранения Российской федерации №170 от 27 мая 1997 года «О переходе органов и учреждений здравоохранения Российской Федерации на Международную статистическую классификацию болезней и проблем, связанных со здоровьем X пересмотра». https://normativ.kontur.ru/document?moduleId=1&documentId=73815

D’Arrigo S., Gavazzi F., Alfei E. et al. The Diagnostic Yield of Array Comparative Genomic Hybridization Is High Regardless of Severity of Intellectual Disability/Developmental Delay in Children. J Child Neurol. 2016;31(6):691-699.

The Deciphering Developmental Disorders Study. Large-scale discovery of novel genetic causes of developmental disorders. Nature 519, 223-228 (2015).

de la Paz M.P. Rare diseases epidemiology: update and overview, advances in experimental medicine and biology. 2017.

Wellesley D.G., Hockey K.A., Montgomery P.D. et al. 1992. Prevalence of intellectual handicap in Western Australia: a community study. Med J Aust. 1992;156:94-102.

Chelly J., Khelfaoui M., Francis F. et al. Genetics and pathophysiology of mental retardation. Eur J Hum Genet. 2006;14(6):701-713.

Гинтер Е.К. Медицинская генетика. Изд-во: Медицина Москва 2003.

Linden M.G., Bender B.G., Robinson A. Sex chromosome tetrasomy and pentasomy. Pediatrics. 1995, 96:672-682.

Devriendt K., Holvoet M., Fryns J. An etiological diagnostic survey in children attending a school for special education. Genet Couns. 2003;14:125.

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 Part A. 2006;140A:2063-74.

Michelson D.J., Shevell M.I., Sherr E.H. et al. Evidence report: genetic and metabolic testing on children with global developmental delay: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society. Neurology. 2011;77:1629-35.

Gilissen C., Hehir-Kwa J.Y., Thung D.T. et al. Genome sequencing identifies major causes of severe intellectual disability. Nature. 2014;511(7509):344-347.

Desai S.S. Down syndrome: a review of the literature. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 1997;84(3):279-285.

van Karnebeek C.D., Jansweijer M.C., Leenders A.G. et al. Diagnostic investigations in individuals with mental retardation: a systematic literature review of their usefulness. Eur J Hum Genet. 2005;13:6-25.

Shevell M., Ashwal S., Donley D. et al. Practice parameter: evaluation of the child with global developmental delay: report of the Quality Standards Subcommittee of the American Academy of Neurology and The Practice Committee of the Child Neurology Society. Neurology. 2003;60:367-380.

Beaudet A.L. The utility of chromosomal microarray analysis in developmental and behavioral pediatrics. Child Dev. 2013;84(1): 121-132.

Miller D.T., Adam M.P., 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.

Stankiewicz P., Beaudet A.L. Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation. Curr Opin Genet Dev. 2007;17(3):182-192.

Blyth M., Maloney V., Beal S. et al. Pallister-Killian syndrome: a study of 22 British patients. J Med Genet. 2015;52(7):454-464.

Shaw-Smith C., Redon R., Rickman L. et al. Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features. J Med Genet. 2004;41:241-248.

Наследственные болезни: национальное руководство / Под ред. Н. П. Бочкова, Е. К. Гинтера, В. П. Пузырева - Москва: ГЭОТАР-Медиа, 2012. - 936 с.

Berisha S.Z., Shetty S., Prior T.W. et al. Cytogenetic and molecular diagnostic testing associated with prenatal and postnatal birth defects. Birth Defects Res. 2020;112(4):293-306.

Shin S., Yu N., Choi J.R. et al. Routine chromosomal microarray analysis is necessary in Korean patients with unexplained developmental delay/mental retardation/autism spectrum disorder. Ann Lab Med. 2015;35(5):510-518.

Han J.Y., Lee I.G. Genetic tests by next generation sequencing in children with developmental delay and/or intellectual disability. Clin Exp Pediatr. 2020;10.

Патофизиология, т.1 / под ред. В.В. Новицкого, Е.Д. Гольдберга, О.И. Уразовой. Изд-во: ГЭОТАР-Медиа 2013.

Morton N., Rao D.C., Lang-Brown H. et al. Colchester revisited: a genetic study of mental defect. J. Med. Genet. 1977;14:1-9.

Binaafar S., Razmara E., Mahdieh N. et al. A novel missense variant in GPT2 causes non-syndromic autosomal recessive intellectual disability in a consanguineous Iranian family. Eur J Med Genet. 2020;63(5):103853.

Williams et al. Genetic disorders sourcebook. Omnigraphics (7th edition). 2019.

Hoffmann G.F., Zschocke J., Nyhan W.L. Inherited metabolic diseases. Springer. 2010.

Волгина С.Я., Асанов А.Ю., Соколов А.А. Современные аспекты диагностики, лечения и наблюдения детей с галактоземией I типа. Российский вестник перинатологии и педиатрии. 2015;5:179-187.

Bagni C., Greenough W.T. From mRNP trafficking to spine dysmorphogenesis: the roots of fragile X syndrome. Nat Rev Neurosci. 2005;6:376-387.

Marin-Padilla M. Structural abnormalities of the cerebral cortex in human chromosomal aberrations: a Golgi study. Brain Res. 1972;44:625-629.

Purpura D.P. Dendritic spine ‘dysgenesis’ and mental retardation. Science. 1976;186:1126-1128.

Hinton V.J., Brown W.T., Wisniewski K. et al. Analysis of neocortex in three males with the fragile X syndrome. Am J Med Genet. 1991;41:289-294.

Irwin S.A., Patel B., Idupulapati M. et al. Abnormal dendritic spine characteristics in the temporal and visual cortices of patients with fragile-X syndrome: a quantitative examination. Am J Med Genet. 2001;98:161-167.

Comery T.A., Harris J.B., Willems P.J. et al. Abnormal dendritic spines in fragile X knockout mice: maturation and pruning deficits. Proc Natl Acad Sci USA. 1997;94:5401-5404.

Huttenlocher P.R., Dabholkar A.S. Regional differences in synaptogenesis in human cerebral cortex. J Comp Neurol. 1997;387:167-178.

Boda B., Alberi S., Nikonenko I. et al. The mental retardation protein PAK3 contributes to synapse formation and plasticity in hippocampus. J Neurosci. 2004;24:10816-10825.

Govek E.E., Newey S.E., Akerman C.J. et al. The X-linked mental retardation protein oligophrenin-1 is required for dendritic spine morphogenesis. Nat Neurosci. 2004;7:364-372.

Meng J., Meng Y., Hanna A. et al. Abnormal long-lasting synaptic plasticity and cognition in mice lacking the mental retardation gene Pak3. J Neurosci. 2005;25:6641-6650.

Nodé-Langlois R., Muller D., Boda B. Sequential implication of the mental retardation proteins ARHGEF6 and PAK3 in spine morphogenesis. J Cell Sci. 2006;119(Pt 23):4986-4993.

Fischer M., Kaech S., Wagner U. et al. Glutamate receptors regulate actin-based plasticity in dendritic spines. Nat Neurosci. 2000;3:887-894.

Genot E., Daubon T., Sorrentino V. et al. FGD1 as a central regulator of extracellular matrix remodeling lessons from faciogenital dysplasia. J Cell Sci. 2012;125(Pt 14):3265-3270.

Qadir M.I., Parveen A., Ali M. Cdc42: Role in cancer management. Chem Biol Drug Des. 2015;86(4): 432-439.

des Portes V., Soufir N., Carrié A. et al. Gene for nonspecific X-linked mental retardation (MRX 47) is located in Xq22.3-q24. Am J Med Genet. 1997;72(3):324-328.

Schwartz C.E. X-linked mental retardation: in pursuit of a gene map. Am J Hum Genet. 1993;52(6):1025-1031.

van Karnebeek C.D., Stockler S. Treatable inborn errors of metabolism causing intellectual disability: a systematic literature review. Mol Genet Metab. 2012;105(3):368-381.

Harripaul R., Noor A., Ayub M. et al. The use of next-generation sequencing for research and diagnostics for intellectual disability. Cold Spring Harb Perspect Med. 2017;7(3):a026864.

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 [published correction appears in Am J Hum Genet. 2011 Apr 8;88(4):516]. Am J Hum Genet. 2011;88(3):306-316.

Tarpey P.S., Smith R., Pleasance E. et al. A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. Nat Genet. 2009;41:535-543.

Jensen L.R., Lenzner S., Moser B. et al. X-linked mental retardation: A comprehensive molecular screen of 47 candidate genes from a 7.4 Mb interval in Xp11. Eur J Hum Genet. 2007;15: 68-75.

Boycott K.M., Vanstone M.R., Bulman, D. E. et al. Rare-disease genetics in the era of next-generation sequencing: discovery to translation. Nat. Rev. Genet. 2013;14:681-691.

Najmabadi H., Hu H., Garshasbi M. et al. Deep sequencing reveals 50 novel genes for recessive cognitive disorders. Nature. 2011;478:57-63.

Tzschach A., Grasshoff U., Beck-Woedl S. et al. Next-generation sequencing in X-linked intellectual disability. Eur J Hum Genet. 2015;23:1513-1518.

Choi M., Scholl U.I., Ji W. et al. Genetic diagnosis by whole exome capture and massively parallel DNA sequencing. Proc Natl Acad Sci USA. 2009;106(45):19096-19101.

Clark M.M., Stark Z., Farnaes L. et al. Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases. Npj Genom Med. 2018;3:16.

Harripaul R., Vasli N., Mikhailov A. et al. Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families. Mol Psychiatry. 2018;23(4):973-984.

de Ligt J, Willemsen M.H., van Bon B.W.M. Diagnostic exome sequencing in persons with severe intellectual disability. N Engl J Med. 2012;367:1921-1929.

Wright C.F., Fitzgerald T.W., Jones W.D. et al. Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data. Lancet. 2015;385:1305-1314.

Lee H., Deignan J.L., Dorrani N. et al. Clinical exome sequencing for genetic identiﬁcation of rare Mendelian disorders. JAMA. 2014;312:1880-1887.

Lindstrand A., Eisfeldt J., Pettersson M. et al. From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability. Genome Med. 2019;11(1):68.

The authors declare that there are no conflicts of interest present.