Complex Diagnostics of Non-Specific Intellectual Developmental Disorder.
| Title: | Complex Diagnostics of Non-Specific Intellectual Developmental Disorder. |
|---|---|
| Authors: | Levchenko O; Research Centre for Medical Genetics, 115522 Moscow, Russia.; Dadali E; Research Centre for Medical Genetics, 115522 Moscow, Russia.; Bessonova L; Research Centre for Medical Genetics, 115522 Moscow, Russia.; Demina N; Research Centre for Medical Genetics, 115522 Moscow, Russia.; Rudenskaya G; Research Centre for Medical Genetics, 115522 Moscow, Russia.; Matyushchenko G; Research Centre for Medical Genetics, 115522 Moscow, Russia.; Markova T; Research Centre for Medical Genetics, 115522 Moscow, Russia.; Anisimova I; Research Centre for Medical Genetics, 115522 Moscow, Russia.; Semenova N; Research Centre for Medical Genetics, 115522 Moscow, Russia.; Shchagina O; Research Centre for Medical Genetics, 115522 Moscow, Russia.; Ryzhkova O; Research Centre for Medical Genetics, 115522 Moscow, Russia.; Zinchenko R; Research Centre for Medical Genetics, 115522 Moscow, Russia.; Galkina V; Research Centre for Medical Genetics, 115522 Moscow, Russia.; Voinova V; Veltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical University, 125412 Moscow, Russia.; Mental Health Research Center, 115522 Moscow, Russia.; Nagieva S; Research Centre for Medical Genetics, 115522 Moscow, Russia.; Lavrov A; Research Centre for Medical Genetics, 115522 Moscow, Russia. |
| Source: | International journal of molecular sciences [Int J Mol Sci] 2022 Jul 14; Vol. 23 (14). Date of Electronic Publication: 2022 Jul 14. |
| Publication Type: | Journal Article |
| Language: | English |
| Journal Info: | Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE |
| Imprint Name(s): | Original Publication: Basel, Switzerland : MDPI, [2000- |
| MeSH Terms: | Intellectual Disability*/diagnosis ; Intellectual Disability*/genetics; Developmental Disabilities/diagnosis ; Developmental Disabilities/genetics ; Child ; Chromosome Aberrations ; Humans ; Microarray Analysis ; Exome Sequencing |
| Abstract: | Intellectual development disorder (IDD) is characterized by a general deficit in intellectual and adaptive functioning. In recent years, there has been a growing interest in studying the genetic structure of IDD. Of particular difficulty are patients with non-specific IDD, for whom it is impossible to establish a clinical diagnosis without complex genetic diagnostics. We examined 198 patients with non-specific IDD from 171 families using whole-exome sequencing and chromosome microarray analysis. Hereditary forms of IDD account for at least 35.7% of non-specific IDD, of which 26.9% are monogenic forms. Variants in the genes associated with the BAF (SWI/SNF) complex were the most frequently identified. We were unable to identify phenotypic features that would allow differential diagnosis of monogenic and microstructural chromosomal rearrangements in non-specific IDD at the stage of clinical examination, but due to its higher efficiency, exome sequencing should be the diagnostic method of the highest priority study after the standard examination of patients with NIDD in Russia. |
| References: | Neurology. 2013 Sep 10;81(11):992-8. (PMID: 23935176); Hum Mol Genet. 1999 Aug;8(8):1461-72. (PMID: 10400993); Clin Genet. 2018 Mar;93(3):567-576. (PMID: 28708303); Hum Genet. 2017 Aug;136(8):921-939. (PMID: 28600779); PLoS Genet. 2021 Aug 6;17(8):e1009698. (PMID: 34358225); Acta Neuropathol. 2018 May;135(5):727-742. (PMID: 29423877); Sci Transl Med. 2014 Dec 3;6(265):265ra168. (PMID: 25473036); Am J Hum Genet. 2004 Jul;75(1):138-45. (PMID: 15154116); Clin Genet. 2017 May;91(5):697-707. (PMID: 27598823); Genet Med. 2015 Jul;17(7):578-86. (PMID: 25356970); Clin Genet. 2018 Jun;93(6):1223-1228. (PMID: 29427453); Front Mol Neurosci. 2018 Aug 03;11:252. (PMID: 30123105); Nat Genet. 2017 Apr;49(4):504-510. (PMID: 28191890); Nat Genet. 2010 Dec;42(12):1109-12. (PMID: 21076407); Genome Med. 2016 Jan 06;8(1):3. (PMID: 26739615); Genes (Basel). 2021 Feb 05;12(2):. (PMID: 33562844); Am J Hum Genet. 2019 Feb 7;104(2):246-259. (PMID: 30661772); Hum Genet. 2017 Apr;136(4):377-386. (PMID: 28251352); J Med Genet. 2014 Nov;51(11):724-36. (PMID: 25167861); Gene. 2014 Feb 15;536(1):145-50. (PMID: 24291026); Hum Genet. 2017 Nov;136(11-12):1419-1429. (PMID: 28940097); Sci Rep. 2016 Jun 23;6:28417. (PMID: 27335225); Cold Spring Harb Mol Case Stud. 2015 Oct;1(1):a000562. (PMID: 27148574); Genet Med. 2020 May;22(5):927-936. (PMID: 31911672); J Intellect Disabil Res. 2021 Jun;65(6):577-588. (PMID: 33739554); Clin Genet. 2016 Jun;89(6):728-32. (PMID: 26596517); J Med Genet. 2018 Jan;55(1):48-54. (PMID: 28626029); Nat Commun. 2018 Nov 20;9(1):4885. (PMID: 30459321); Neurochem Int. 2013 Nov;63(6):561-9. (PMID: 24071057); Am J Hum Genet. 2016 Mar 3;98(3):541-552. (PMID: 26942287); Paediatr Child Health. 2018 Sep;23(6):403-419. (PMID: 30919832); Am J Med Genet A. 2009 Aug;149A(8):1628-40. (PMID: 19606471); Eur J Paediatr Neurol. 2020 Jan;24:117-122. (PMID: 31924505); Genet Med. 2021 Jul;23(7):1246-1254. (PMID: 33824500); Osteoporos Int. 2013 Aug;24(8):2253-9. (PMID: 23443412); Genet Med. 2019 Jun;21(6):1295-1307. (PMID: 30349098); Nature. 2014 Jul 17;511(7509):344-7. (PMID: 24896178); Am J Hum Genet. 2013 Aug 8;93(2):249-63. (PMID: 23849776); Eur J Hum Genet. 2021 Sep;29(9):1405-1417. (PMID: 33603160); Cell. 2019 Jan 24;176(3):535-548.e24. (PMID: 30661751); Hum Genet. 2004 Nov;115(6):515-24. (PMID: 15565467); Wellcome Open Res. 2018 Apr 23;3:46. (PMID: 29900417); Hum Mutat. 2016 Aug;37(8):737-44. (PMID: 27120253); Am J Hum Genet. 2014 Feb 6;94(2):278-87. (PMID: 24439110); Am J Hum Genet. 2019 Oct 3;105(4):719-733. (PMID: 31564432); Genet Med. 2015 May;17(5):405-24. (PMID: 25741868); Am J Hum Genet. 2014 May 1;94(5):784-9. (PMID: 24791903); Hum Mol Genet. 2018 Feb 15;27(4):589-600. (PMID: 29267967); JAMA. 2014 Nov 12;312(18):1880-7. (PMID: 25326637); JAMA Neurol. 2017 Nov 1;74(11):1301-1311. (PMID: 28846756); Genet Med. 2020 Nov;22(11):1838-1850. (PMID: 32694869); Ment Retard Dev Disabil Res Rev. 2002;8(3):117-34. (PMID: 12216056); World Psychiatry. 2011 Oct;10(3):175-80. (PMID: 21991267); Neurology. 2016 Jun 7;86(23):2171-8. (PMID: 27164704); J Med Genet. 2016 Mar;53(3):190-9. (PMID: 26740508); J Clin Invest. 2015 Aug 3;125(8):3051-62. (PMID: 26168268); Hum Mutat. 2013 Nov;34(11):1519-28. (PMID: 23929686); Genet Med. 2021 Feb;23(2):352-362. (PMID: 33106617); Am J Hum Genet. 2021 May 6;108(5):857-873. (PMID: 33961779); Proc Natl Acad Sci U S A. 2020 May 5;117(18):10055-10066. (PMID: 32312822); Genes (Basel). 2020 Oct 22;11(11):. (PMID: 33105646); Hum Mutat. 2019 Dec;40(12):2393-2413. (PMID: 31429998); Hum Genet. 2018 May;137(5):375-388. (PMID: 29740699); N Engl J Med. 2012 Nov 15;367(20):1921-9. (PMID: 23033978); BMC Med Genomics. 2018 May 24;11(1):49. (PMID: 29793483); Lancet. 2015 Apr 4;385(9975):1305-14. (PMID: 25529582); Hum Genet. 2017 Feb;136(2):179-192. (PMID: 27848077); Genet Med. 2022 Feb;24(2):364-373. (PMID: 34906496); Psychiatr Genet. 2017 Feb;27(1):23-33. (PMID: 27846046); Eur J Hum Genet. 2018 Jan;26(1):64-74. (PMID: 29180823); J Hum Genet. 2017 Apr;62(5):569-573. (PMID: 27928161); Genet Med. 2021 Feb;23(2):363-373. (PMID: 33144681); Hum Mol Genet. 1997 Aug;6(8):1383-7. (PMID: 9259288); Nat Genet. 2019 Jul;51(7):1192. (PMID: 31168063); BMC Pediatr. 2019 Apr 8;19(1):98. (PMID: 30961548); Ann Neurol. 2014 Oct;76(4):529-540. (PMID: 25164438); Genomics. 1999 Feb 15;56(1):1-11. (PMID: 10036180); PLoS One. 2009 Oct 13;4(10):e7434. (PMID: 19823584); Am J Med Genet A. 2014 Jun;164A(6):1411-8. (PMID: 24664471); Am J Med Genet A. 2017 Feb;173(2):327-337. (PMID: 27774744); J Med Genet. 2012 Dec;49(12):731-6. (PMID: 23099646); Transl Psychiatry. 2017 Feb 21;7(2):e1043. (PMID: 28221363); Neurology. 2016 Mar 8;86(10):954-62. (PMID: 26865513); J Med Genet. 2017 Feb;54(2):87-92. (PMID: 27620904); PLoS One. 2012;7(4):e34739. (PMID: 22509352); Am J Med Genet A. 2009 Mar;149A(3):417-26. (PMID: 19215041); J Intellect Disabil Res. 2021 Dec;65(12):1033-1048. (PMID: 34661940); Mol Autism. 2018 Dec 13;9:64. (PMID: 30564305); Cell Rep. 2012 Dec 27;2(6):1554-62. (PMID: 23246003); Lancet. 2012 Nov 10;380(9854):1674-82. (PMID: 23020937); Curr Opin Psychiatry. 2018 Nov;31(6):490-495. (PMID: 30138136); Am J Hum Genet. 2019 May 2;104(5):815-834. (PMID: 31031012); Cell. 2020 Feb 6;180(3):568-584.e23. (PMID: 31981491); Am J Med Genet A. 2014 Nov;164A(11):2753-63. (PMID: 25125150); Biol Psychiatry. 2019 Feb 15;85(4):287-297. (PMID: 29724491); Hum Genet. 2019 Feb;138(2):187-198. (PMID: 30656450) |
| Contributed Indexing: | Keywords: CMA; IDD; WES; diagnostics; exome sequencing; intellectual disability |
| Entry Date(s): | Date Created: 20220727 Date Completed: 20220728 Latest Revision: 20250728 |
| Update Code: | 20260130 |
| PubMed Central ID: | PMC9323143 |
| DOI: | 10.3390/ijms23147764 |
| PMID: | 35887114 |
| Database: | MEDLINE |
Journal Article