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Non-syndromic intellectual disability

MedGen UID:
963615
•Concept ID:
CN280315
•
Disease or Syndrome
Synonym: Mental retardation non-syndromic
 
Monarch Initiative: MONDO:0000509

Definition

An intellectual disability that is not part of a larger syndrome. [from MONDO]

Professional guidelines

PubMed

Novel MEF2C point mutations in Chinese patients with Rett (-like) syndrome or non-syndromic intellectual disability: insights into genotype-phenotype correlation.
Wang J, Zhang Q, Chen Y, Yu S, Wu X, Bao X, Wen Y
BMC Med Genet 2018 Oct 30;19(1):191. doi: 10.1186/s12881-018-0699-1. PMID: 30376817Free PMC Article

Recent clinical studies

Etiology

Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt.
Shepherdson JL, Hutchison K, Don DW, McGillivray G, Choi TI, Allan CA, Amor DJ, Banka S, Basel DG, Buch LD, Carere DA, Carroll R, Clayton-Smith J, Crawford A, Dunø M, Faivre L, Gilfillan CP, Gold NB, Gripp KW, Hobson E, Holtz AM, Innes AM, Isidor B, Jackson A, Katsonis P, Amel Riazat Kesh L; Genomics England Research Consortium, Küry S, Lecoquierre F, Lockhart P, Maraval J, Matsumoto N, McCarrier J, McCarthy J, Miyake N, Moey LH, Németh AH, Østergaard E, Patel R, Pope K, Posey JE, Schnur RE, Shaw M, Stolerman E, Taylor JP, Wadman E, Wakeling E, White SM, Wong LC, Lupski JR, Lichtarge O, Corbett MA, Gecz J, Nicolet CM, Farnham PJ, Kim CH, Shinawi M
Am J Hum Genet 2024 Mar 7;111(3):487-508. Epub 2024 Feb 6 doi: 10.1016/j.ajhg.2024.01.007. PMID: 38325380Free PMC Article
Diagnostic yield of whole-exome sequencing in non-syndromic intellectual disability.
Taşkıran EZ, Karaosmanoğlu B, Koşukcu C, Ürel-Demir G, Akgün-Doğan Ö, Şimşek-Kiper PÖ, Alikaşifoğlu M, Boduroğlu K, Utine GE
J Intellect Disabil Res 2021 Jun;65(6):577-588. Epub 2021 Mar 19 doi: 10.1111/jir.12835. PMID: 33739554
Mutations of ARX and non-syndromic intellectual disability in Chinese population.
Wu Y, Zhang H, Liu X, Shi Z, Li H, Wang Z, Jie X, Huang S, Zhang F, Li J, Zhang K, Gao X
Genes Genomics 2019 Jan;41(1):125-131. Epub 2018 Sep 25 doi: 10.1007/s13258-018-0745-6. PMID: 30255221
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.
Rauch A, Wieczorek D, Graf E, Wieland T, Endele S, Schwarzmayr T, Albrecht B, Bartholdi D, Beygo J, Di Donato N, Dufke A, Cremer K, Hempel M, Horn D, Hoyer J, Joset P, Röpke A, Moog U, Riess A, Thiel CT, Tzschach A, Wiesener A, Wohlleber E, Zweier C, Ekici AB, Zink AM, Rump A, Meisinger C, Grallert H, Sticht H, Schenck A, Engels H, Rappold G, Schröck E, Wieacker P, Riess O, Meitinger T, Reis A, Strom TM
Lancet 2012 Nov 10;380(9854):1674-82. Epub 2012 Sep 27 doi: 10.1016/S0140-6736(12)61480-9. PMID: 23020937
SWI/SNF complex in disorder: SWItching from malignancies to intellectual disability.
Santen GW, Kriek M, van Attikum H
Epigenetics 2012 Nov;7(11):1219-24. Epub 2012 Sep 25 doi: 10.4161/epi.22299. PMID: 23010866Free PMC Article

Diagnosis

A novel heterozygous ZBTB18 missense mutation in a family with non-syndromic intellectual disability.
Li N, Kang H, Zou Y, Liu Z, Deng Y, Wang M, Li L, Qin H, Qiu X, Wang Y, Zhu J, Agostino M, Heng JI, Yu P
Neurogenetics 2023 Oct;24(4):251-262. Epub 2023 Jul 31 doi: 10.1007/s10048-023-00727-7. PMID: 37525067
Uptake of funded genomic testing for syndromic and non-syndromic intellectual disability in Australia.
Mordaunt DA, Dalziel K, Goranitis I, Stark Z
Eur J Hum Genet 2023 Sep;31(9):977-979. Epub 2023 Jul 3 doi: 10.1038/s41431-023-01417-6. PMID: 37400487Free PMC Article
Diagnostic yield of whole-exome sequencing in non-syndromic intellectual disability.
Taşkıran EZ, Karaosmanoğlu B, Koşukcu C, Ürel-Demir G, Akgün-Doğan Ö, Şimşek-Kiper PÖ, Alikaşifoğlu M, Boduroğlu K, Utine GE
J Intellect Disabil Res 2021 Jun;65(6):577-588. Epub 2021 Mar 19 doi: 10.1111/jir.12835. PMID: 33739554
Linkage and exome analysis implicate multiple genes in non-syndromic intellectual disability in a large Swedish family.
Lindholm Carlström E, Halvardson J, Etemadikhah M, Wetterberg L, Gustavson KH, Feuk L
BMC Med Genomics 2019 Nov 6;12(1):156. doi: 10.1186/s12920-019-0606-4. PMID: 31694657Free PMC Article
Mutations of ARX and non-syndromic intellectual disability in Chinese population.
Wu Y, Zhang H, Liu X, Shi Z, Li H, Wang Z, Jie X, Huang S, Zhang F, Li J, Zhang K, Gao X
Genes Genomics 2019 Jan;41(1):125-131. Epub 2018 Sep 25 doi: 10.1007/s13258-018-0745-6. PMID: 30255221

Therapy

Identification of two aberrant transcripts by RNA sequencing for a novel variant c.3354 + 5 G > A of MED12 in a Chinese girl with non-syndromic intellectual disability.
Zhi X, Pu L, Wu B, Cui Y, Yu C, Dong Y, Li D, Cai C
Clin Chim Acta 2022 Jul 1;532:137-144. Epub 2022 Jun 8 doi: 10.1016/j.cca.2022.05.023. PMID: 35690084
Mutations of ARX and non-syndromic intellectual disability in Chinese population.
Wu Y, Zhang H, Liu X, Shi Z, Li H, Wang Z, Jie X, Huang S, Zhang F, Li J, Zhang K, Gao X
Genes Genomics 2019 Jan;41(1):125-131. Epub 2018 Sep 25 doi: 10.1007/s13258-018-0745-6. PMID: 30255221

Prognosis

A novel heterozygous ZBTB18 missense mutation in a family with non-syndromic intellectual disability.
Li N, Kang H, Zou Y, Liu Z, Deng Y, Wang M, Li L, Qin H, Qiu X, Wang Y, Zhu J, Agostino M, Heng JI, Yu P
Neurogenetics 2023 Oct;24(4):251-262. Epub 2023 Jul 31 doi: 10.1007/s10048-023-00727-7. PMID: 37525067
A novel homozygous mutation in TRAPPC9 gene causing autosomal recessive non-syndromic intellectual disability.
Amin M, Vignal C, Eltaraifee E, Mohammed IN, Hamed AAA, Elseed MA, Babai A, Elbadi I, Mustafa D, Abubaker R, Mustafa M, Drunat S, Elsayed LEO, Ahmed AE, Boespflug-Tanguy O, Dorboz I
BMC Med Genomics 2022 Nov 8;15(1):236. doi: 10.1186/s12920-022-01354-1. PMID: 36348459Free PMC Article
Mutations of ARX and non-syndromic intellectual disability in Chinese population.
Wu Y, Zhang H, Liu X, Shi Z, Li H, Wang Z, Jie X, Huang S, Zhang F, Li J, Zhang K, Gao X
Genes Genomics 2019 Jan;41(1):125-131. Epub 2018 Sep 25 doi: 10.1007/s13258-018-0745-6. PMID: 30255221
Identification of a novel homozygous TRAPPC9 gene mutation causing non-syndromic intellectual disability, speech disorder, and secondary microcephaly.
Abbasi AA, Blaesius K, Hu H, Latif Z, Picker-Minh S, Khan MN, Farooq S, Khan MA, Kaindl AM
Am J Med Genet B Neuropsychiatr Genet 2017 Dec;174(8):839-845. Epub 2017 Oct 14 doi: 10.1002/ajmg.b.32602. PMID: 29031008
Target sequencing approach intended to discover new mutations in non-syndromic intellectual disability.
Morgan A, Gandin I, Belcaro C, Palumbo P, Palumbo O, Biamino E, Dal Col V, Laurini E, Pricl S, Bosco P, Carella M, Ferrero GB, Romano C, d'Adamo AP, Faletra F, Vozzi D
Mutat Res 2015 Nov;781:32-6. Epub 2015 Sep 10 doi: 10.1016/j.mrfmmm.2015.09.002. PMID: 26411299

Clinical prediction guides

Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt.
Shepherdson JL, Hutchison K, Don DW, McGillivray G, Choi TI, Allan CA, Amor DJ, Banka S, Basel DG, Buch LD, Carere DA, Carroll R, Clayton-Smith J, Crawford A, Dunø M, Faivre L, Gilfillan CP, Gold NB, Gripp KW, Hobson E, Holtz AM, Innes AM, Isidor B, Jackson A, Katsonis P, Amel Riazat Kesh L; Genomics England Research Consortium, Küry S, Lecoquierre F, Lockhart P, Maraval J, Matsumoto N, McCarrier J, McCarthy J, Miyake N, Moey LH, Németh AH, Østergaard E, Patel R, Pope K, Posey JE, Schnur RE, Shaw M, Stolerman E, Taylor JP, Wadman E, Wakeling E, White SM, Wong LC, Lupski JR, Lichtarge O, Corbett MA, Gecz J, Nicolet CM, Farnham PJ, Kim CH, Shinawi M
Am J Hum Genet 2024 Mar 7;111(3):487-508. Epub 2024 Feb 6 doi: 10.1016/j.ajhg.2024.01.007. PMID: 38325380Free PMC Article
Further characterisation of ARX-related disorders in females due to inherited or de novo variants.
Gras M, Heide S, Keren B, Valence S, Garel C, Whalen S, Jansen AC, Keymolen K, Stouffs K, Jennesson M, Poirsier C, Lesca G, Depienne C, Nava C, Rastetter A, Curie A, Cuisset L, Des Portes V, Milh M, Charles P, Mignot C, Héron D
J Med Genet 2024 Jan 19;61(2):103-108. doi: 10.1136/jmg-2023-109203. PMID: 37879892
A novel heterozygous ZBTB18 missense mutation in a family with non-syndromic intellectual disability.
Li N, Kang H, Zou Y, Liu Z, Deng Y, Wang M, Li L, Qin H, Qiu X, Wang Y, Zhu J, Agostino M, Heng JI, Yu P
Neurogenetics 2023 Oct;24(4):251-262. Epub 2023 Jul 31 doi: 10.1007/s10048-023-00727-7. PMID: 37525067
A novel homozygous mutation in TRAPPC9 gene causing autosomal recessive non-syndromic intellectual disability.
Amin M, Vignal C, Eltaraifee E, Mohammed IN, Hamed AAA, Elseed MA, Babai A, Elbadi I, Mustafa D, Abubaker R, Mustafa M, Drunat S, Elsayed LEO, Ahmed AE, Boespflug-Tanguy O, Dorboz I
BMC Med Genomics 2022 Nov 8;15(1):236. doi: 10.1186/s12920-022-01354-1. PMID: 36348459Free PMC Article
Mutations of ARX and non-syndromic intellectual disability in Chinese population.
Wu Y, Zhang H, Liu X, Shi Z, Li H, Wang Z, Jie X, Huang S, Zhang F, Li J, Zhang K, Gao X
Genes Genomics 2019 Jan;41(1):125-131. Epub 2018 Sep 25 doi: 10.1007/s13258-018-0745-6. PMID: 30255221

Recent systematic reviews

Gene networks associated with non-syndromic intellectual disability.
Lee S, Rudd S, Gratten J, Visscher PM, Prins JB, Dawson PA
J Neurogenet 2018 Mar;32(1):6-14. Epub 2017 Dec 4 doi: 10.1080/01677063.2017.1404058. PMID: 29199528

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