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Intellectual disability, X-linked 20(XLID20)

MedGen UID:
208677
Concept ID:
C0796226
Mental or Behavioral Dysfunction
Synonyms: MRX20; XLID20
 
Monarch Initiative: MONDO:0010231
OMIM®: 300047

Definition

Impaired mental functioning occurs as an isolated feature or as part of many syndromes listed in the X-linked catalog. Impaired intellectual development that is not associated with other distinguishing features is referred to as 'nonspecific.' The Human Gene Mapping Nomenclature Committee (Mulley et al., 1992) proposed to designate each newly reported apparently unique X-linked mental retardation (MRX) family with gene symbols (e.g., MRX1, MRX2) if a minimal lod score of 2.0 was demonstrated between the MR locus and one or more X chromosome markers. [from OMIM]

Clinical features

From HPO
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.

Professional guidelines

PubMed

Vilvarajan S, McDonald M, Douglas L, Newham J, Kirkland R, Tzannes G, Tay D, Christodoulou J, Thompson S, Ellaway C
Genes (Basel) 2023 Aug 11;14(8) doi: 10.3390/genes14081607. PMID: 37628658Free PMC Article
Liu S, Li L, Wu H, Pei P, Zheng X, Pan H, Bao X, Qi Y, Ma Y
Mol Genet Genomic Med 2022 Jan;10(1):e1844. Epub 2021 Nov 26 doi: 10.1002/mgg3.1844. PMID: 34826210Free PMC Article
Berger J, Pujol A, Aubourg P, Forss-Petter S
Brain Pathol 2010 Jul;20(4):845-56. doi: 10.1111/j.1750-3639.2010.00393.x. PMID: 20626746Free PMC Article

Recent clinical studies

Etiology

Lewerissa EI, Nadif Kasri N, Linda K
Autophagy 2024 Jan;20(1):15-28. Epub 2023 Sep 6 doi: 10.1080/15548627.2023.2250217. PMID: 37674294Free PMC Article
Vilvarajan S, McDonald M, Douglas L, Newham J, Kirkland R, Tzannes G, Tay D, Christodoulou J, Thompson S, Ellaway C
Genes (Basel) 2023 Aug 11;14(8) doi: 10.3390/genes14081607. PMID: 37628658Free PMC Article
Zanni G, Bertini E
Handb Clin Neurol 2018;155:175-189. doi: 10.1016/B978-0-444-64189-2.00011-1. PMID: 29891057
Hu H, Haas SA, Chelly J, Van Esch H, Raynaud M, de Brouwer AP, Weinert S, Froyen G, Frints SG, Laumonnier F, Zemojtel T, Love MI, Richard H, Emde AK, Bienek M, Jensen C, Hambrock M, Fischer U, Langnick C, Feldkamp M, Wissink-Lindhout W, Lebrun N, Castelnau L, Rucci J, Montjean R, Dorseuil O, Billuart P, Stuhlmann T, Shaw M, Corbett MA, Gardner A, Willis-Owen S, Tan C, Friend KL, Belet S, van Roozendaal KE, Jimenez-Pocquet M, Moizard MP, Ronce N, Sun R, O'Keeffe S, Chenna R, van Bömmel A, Göke J, Hackett A, Field M, Christie L, Boyle J, Haan E, Nelson J, Turner G, Baynam G, Gillessen-Kaesbach G, Müller U, Steinberger D, Budny B, Badura-Stronka M, Latos-Bieleńska A, Ousager LB, Wieacker P, Rodríguez Criado G, Bondeson ML, Annerén G, Dufke A, Cohen M, Van Maldergem L, Vincent-Delorme C, Echenne B, Simon-Bouy B, Kleefstra T, Willemsen M, Fryns JP, Devriendt K, Ullmann R, Vingron M, Wrogemann K, Wienker TF, Tzschach A, van Bokhoven H, Gecz J, Jentsch TJ, Chen W, Ropers HH, Kalscheuer VM
Mol Psychiatry 2016 Jan;21(1):133-48. Epub 2015 Feb 3 doi: 10.1038/mp.2014.193. PMID: 25644381Free PMC Article
Biffi A, Aubourg P, Cartier N
Hum Mol Genet 2011 Apr 15;20(R1):R42-53. Epub 2011 Mar 31 doi: 10.1093/hmg/ddr142. PMID: 21459776

Diagnosis

Boniel S, Szymańska K, Śmigiel R, Szczałuba K
Genes (Basel) 2021 Mar 25;12(4) doi: 10.3390/genes12040468. PMID: 33805950Free PMC Article
de Ligt J, Willemsen MH, van Bon BW, Kleefstra T, Yntema HG, Kroes T, Vulto-van Silfhout AT, Koolen DA, de Vries P, Gilissen C, del Rosario M, Hoischen A, Scheffer H, de Vries BB, Brunner HG, Veltman JA, Vissers LE
N Engl J Med 2012 Nov 15;367(20):1921-9. Epub 2012 Oct 3 doi: 10.1056/NEJMoa1206524. PMID: 23033978
Cappa M, Bizzarri C, Vollono C, Petroni A, Banni S
Endocr Dev 2011;20:149-160. Epub 2010 Dec 16 doi: 10.1159/000321236. PMID: 21164268
Moser HW, Mahmood A, Raymond GV
Nat Clin Pract Neurol 2007 Mar;3(3):140-51. doi: 10.1038/ncpneuro0421. PMID: 17342190
Moser HW, Bergin A, Naidu S, Ladenson PW
Endocrinol Metab Clin North Am 1991 Jun;20(2):297-318. PMID: 1879401

Therapy

Guillén-Yunta M, Valcárcel-Hernández V, García-Aldea Á, Soria G, García-Verdugo JM, Montero-Pedrazuela A, Guadaño-Ferraz A
Fluids Barriers CNS 2023 Nov 3;20(1):79. doi: 10.1186/s12987-023-00481-w. PMID: 37924081Free PMC Article
Maia N, Ibarluzea N, Misra-Isrie M, Koboldt DC, Marques I, Soares G, Santos R, Marcelis CLM, Keski-Filppula R, Guitart M, Gabau Vila E, Lehman A, Hickey S, Mori M, Terhal P, Valenzuela I, Lasa-Aranzasti A, Cueto-González AM, Chhouk BH, Yeh RC, Neil JE, Abu-Libde B, Kleefstra T, Elting MW, Császár A, Kárteszi J, Bessenyei B, van Bokhoven H, Jorge P, van Hagen JM, de Brouwer APM
Am J Med Genet A 2023 Jan;191(1):135-143. Epub 2022 Oct 22 doi: 10.1002/ajmg.a.63004. PMID: 36271811Free PMC Article
Kadam SD, Sullivan BJ, Goyal A, Blue ME, Smith-Hicks C
Int J Mol Sci 2019 Oct 15;20(20) doi: 10.3390/ijms20205098. PMID: 31618813Free PMC Article
Moser HW, Mahmood A, Raymond GV
Nat Clin Pract Neurol 2007 Mar;3(3):140-51. doi: 10.1038/ncpneuro0421. PMID: 17342190
Williams DM
Semin Hematol 1983 Apr;20(2):118-28. PMID: 6410510

Prognosis

Vilvarajan S, McDonald M, Douglas L, Newham J, Kirkland R, Tzannes G, Tay D, Christodoulou J, Thompson S, Ellaway C
Genes (Basel) 2023 Aug 11;14(8) doi: 10.3390/genes14081607. PMID: 37628658Free PMC Article
Verma S, Pantoom S, Petters J, Pandey AK, Hermann A, Lukas J
Mutat Res Rev Mutat Res 2021 Jul-Dec;788:108392. Epub 2021 Aug 8 doi: 10.1016/j.mrrev.2021.108392. PMID: 34893157
Bayat A, Kløvgaard M, Johannesen KM, Barakat TS, Kievit A, Montomoli M, Parrini E, Pietrafusa N, Schelhaas J, van Slegtenhorst M, Miya K, Guerrini R, Tranebjærg L, Tümer Z, Rubboli G, Møller RS
Epilepsy Res 2021 Feb;170:106530. Epub 2020 Dec 9 doi: 10.1016/j.eplepsyres.2020.106530. PMID: 33508693
de Ligt J, Willemsen MH, van Bon BW, Kleefstra T, Yntema HG, Kroes T, Vulto-van Silfhout AT, Koolen DA, de Vries P, Gilissen C, del Rosario M, Hoischen A, Scheffer H, de Vries BB, Brunner HG, Veltman JA, Vissers LE
N Engl J Med 2012 Nov 15;367(20):1921-9. Epub 2012 Oct 3 doi: 10.1056/NEJMoa1206524. PMID: 23033978
Berger J, Pujol A, Aubourg P, Forss-Petter S
Brain Pathol 2010 Jul;20(4):845-56. doi: 10.1111/j.1750-3639.2010.00393.x. PMID: 20626746Free PMC Article

Clinical prediction guides

Vilvarajan S, McDonald M, Douglas L, Newham J, Kirkland R, Tzannes G, Tay D, Christodoulou J, Thompson S, Ellaway C
Genes (Basel) 2023 Aug 11;14(8) doi: 10.3390/genes14081607. PMID: 37628658Free PMC Article
Verma S, Pantoom S, Petters J, Pandey AK, Hermann A, Lukas J
Mutat Res Rev Mutat Res 2021 Jul-Dec;788:108392. Epub 2021 Aug 8 doi: 10.1016/j.mrrev.2021.108392. PMID: 34893157
Bayat A, Kløvgaard M, Johannesen KM, Barakat TS, Kievit A, Montomoli M, Parrini E, Pietrafusa N, Schelhaas J, van Slegtenhorst M, Miya K, Guerrini R, Tranebjærg L, Tümer Z, Rubboli G, Møller RS
Epilepsy Res 2021 Feb;170:106530. Epub 2020 Dec 9 doi: 10.1016/j.eplepsyres.2020.106530. PMID: 33508693
de Ligt J, Willemsen MH, van Bon BW, Kleefstra T, Yntema HG, Kroes T, Vulto-van Silfhout AT, Koolen DA, de Vries P, Gilissen C, del Rosario M, Hoischen A, Scheffer H, de Vries BB, Brunner HG, Veltman JA, Vissers LE
N Engl J Med 2012 Nov 15;367(20):1921-9. Epub 2012 Oct 3 doi: 10.1056/NEJMoa1206524. PMID: 23033978
Lubs HA, Chiurazzi P, Arena JF, Schwartz C, Tranebjaerg L, Neri G
Am J Med Genet 1996 Jul 12;64(1):147-57. doi: 10.1002/(SICI)1096-8628(19960712)64:1<147::AID-AJMG25>3.0.CO;2-M. PMID: 8826465

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