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X-linked intellectual disability(XLID)

MedGen UID:
211749
Concept ID:
C1136249
Disease or Syndrome
Synonyms: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED; Mental retardation, X-linked; XLID
 
Monarch Initiative: MONDO:0100284
OMIM®: 300427; 300495

Definition

An X-linked intellectual deficiency in which not enough information is known, reported or published to indicate whether a gene causes non-syndromic or syndromic presentations. [from MONDO]

Professional guidelines

PubMed

Dubbs H, Ortiz-Gonzalez X, Marsh ED
Am J Med Genet A 2022 Sep;188(9):2617-2626. Epub 2022 Jun 7 doi: 10.1002/ajmg.a.62863. PMID: 35670295
Nakamura Y, Hanasaki M, Sano T, Hayasaki H, Iwase Y, Saitoh I
J Dent Child (Chic) 2021 Sep 15;88(3):206-209. PMID: 34937632
van de Kamp JM, Betsalel OT, Mercimek-Mahmutoglu S, Abulhoul L, Grünewald S, Anselm I, Azzouz H, Bratkovic D, de Brouwer A, Hamel B, Kleefstra T, Yntema H, Campistol J, Vilaseca MA, Cheillan D, D'Hooghe M, Diogo L, Garcia P, Valongo C, Fonseca M, Frints S, Wilcken B, von der Haar S, Meijers-Heijboer HE, Hofstede F, Johnson D, Kant SG, Lion-Francois L, Pitelet G, Longo N, Maat-Kievit JA, Monteiro JP, Munnich A, Muntau AC, Nassogne MC, Osaka H, Ounap K, Pinard JM, Quijano-Roy S, Poggenburg I, Poplawski N, Abdul-Rahman O, Ribes A, Arias A, Yaplito-Lee J, Schulze A, Schwartz CE, Schwenger S, Soares G, Sznajer Y, Valayannopoulos V, Van Esch H, Waltz S, Wamelink MM, Pouwels PJ, Errami A, van der Knaap MS, Jakobs C, Mancini GM, Salomons GS
J Med Genet 2013 Jul;50(7):463-72. Epub 2013 May 3 doi: 10.1136/jmedgenet-2013-101658. PMID: 23644449

Recent clinical studies

Etiology

Bernardo P, Cuccurullo C, Rubino M, De Vita G, Terrone G, Bilo L, Coppola A
Int J Mol Sci 2024 Apr 8;25(7) doi: 10.3390/ijms25074110. PMID: 38612920Free PMC Article
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
Bünger I, Makridis KL, Kreye J, Nikolaus M, Sedlin E, Ullrich T, Hoffmann C, Tromm JV, Rasmussen HF, Milovanovic D, Höltje M, Prüss H, Kaindl AM
Front Immunol 2023;14:1101087. Epub 2023 Jan 19 doi: 10.3389/fimmu.2023.1101087. PMID: 36742338Free PMC Article
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
Jorge P, Oliveira B, Marques I, Santos R
BMC Med Genet 2013 Aug 5;14:80. doi: 10.1186/1471-2350-14-80. PMID: 23914978Free PMC Article

Diagnosis

Jain V, Foo SH, Chooi S, Moss C, Goodwin R, Berland S, Clarke AJ, Davies SJ, Corrin S, Murch O, Doyle S, Graham GE, Greenhalgh L, Holder SE, Johnson D, Kumar A, Ladda RL, Sell S, Begtrup A, Lynch SA, McCann E, Østern R, Pottinger C, Splitt M, Fry AE
Eur J Hum Genet 2023 Dec;31(12):1421-1429. Epub 2023 Sep 14 doi: 10.1038/s41431-023-01447-0. PMID: 37704779Free PMC Article
Schwartz CE, Louie RJ, Toutain A, Skinner C, Friez MJ, Stevenson RE
Am J Med Genet A 2023 Jan;191(1):144-159. Epub 2022 Oct 27 doi: 10.1002/ajmg.a.63008. PMID: 36300573
De Luca C, Race V, Keldermans L, Bauters M, Van Esch H
Br Med Bull 2020 May 15;133(1):36-48. doi: 10.1093/bmb/ldz039. PMID: 32043524
Neri G, Schwartz CE, Lubs HA, Stevenson RE
Am J Med Genet A 2018 Jun;176(6):1375-1388. Epub 2018 Apr 25 doi: 10.1002/ajmg.a.38710. PMID: 29696803Free PMC Article
LaDuca H, Farwell KD, Vuong H, Lu HM, Mu W, Shahmirzadi L, Tang S, Chen J, Bhide S, Chao EC
PLoS One 2017;12(2):e0170843. Epub 2017 Feb 2 doi: 10.1371/journal.pone.0170843. PMID: 28152038Free PMC Article

Therapy

Ghesh L, Besnard T, Nizon M, Trochu E, Landeau-Trottier G, Breheret F, Thauvin-Robinet C, Bruel AL, Kuentz P, Coubes C, Cuisset L, Mignot C, Keren B, Bézieau S, Cogné B
Hum Mutat 2021 May;42(5):498-505. Epub 2021 Mar 14 doi: 10.1002/humu.24188. PMID: 33600053
Calò LA, Davis PA
Int J Mol Sci 2020 Aug 7;21(16) doi: 10.3390/ijms21165660. PMID: 32784543Free PMC Article
Ziats CA, Schwartz CE, Gecz J, Shaw M, Field MJ, Stevenson RE, Neri G
Clin Genet 2020 Mar;97(3):418-425. Epub 2019 Nov 24 doi: 10.1111/cge.13667. PMID: 31705537
LaDuca H, Farwell KD, Vuong H, Lu HM, Mu W, Shahmirzadi L, Tang S, Chen J, Bhide S, Chao EC
PLoS One 2017;12(2):e0170843. Epub 2017 Feb 2 doi: 10.1371/journal.pone.0170843. PMID: 28152038Free PMC Article
Chakrabarti A, Oehme I, Witt O, Oliveira G, Sippl W, Romier C, Pierce RJ, Jung M
Trends Pharmacol Sci 2015 Jul;36(7):481-92. Epub 2015 May 23 doi: 10.1016/j.tips.2015.04.013. PMID: 26013035

Prognosis

Hiatt SM, Trajkova S, Sebastiano MR, Partridge EC, Abidi FE, Anderson A, Ansar M, Antonarakis SE, Azadi A, Bachmann-Gagescu R, Bartuli A, Benech C, Berkowitz JL, Betti MJ, Brusco A, Cannon A, Caron G, Chen Y, Cochran ME, Coleman TF, Crenshaw MM, Cuisset L, Curry CJ, Darvish H, Demirdas S, Descartes M, Douglas J, Dyment DA, Elloumi HZ, Ermondi G, Faoucher M, Farrow EG, Felker SA, Fisher H, Hurst ACE, Joset P, Kelly MA, Kmoch S, Leadem BR, Lyons MJ, Macchiaiolo M, Magner M, Mandrile G, Mattioli F, McEown M, Meadows SK, Medne L, Meeks NJL, Montgomery S, Napier MP, Natowicz M, Newberry KM, Niceta M, Noskova L, Nowak CB, Noyes AG, Osmond M, Prijoles EJ, Pugh J, Pullano V, Quélin C, Rahimi-Aliabadi S, Rauch A, Redon S, Reymond A, Schwager CR, Sellars EA, Scheuerle AE, Shukarova-Angelovska E, Skraban C, Stolerman E, Sullivan BR, Tartaglia M, Thiffault I, Uguen K, Umaña LA, van Bever Y, van der Crabben SN, van Slegtenhorst MA, Waisfisz Q, Washington C, Rodan LH, Myers RM, Cooper GM
Am J Hum Genet 2023 Feb 2;110(2):215-227. Epub 2022 Dec 30 doi: 10.1016/j.ajhg.2022.12.007. PMID: 36586412Free PMC Article
De Luca C, Race V, Keldermans L, Bauters M, Van Esch H
Br Med Bull 2020 May 15;133(1):36-48. doi: 10.1093/bmb/ldz039. PMID: 32043524
Cristofoli F, Devriendt K, Davis EE, Van Esch H, Vermeesch JR
Hum Mutat 2018 Jul;39(7):993-1001. Epub 2018 May 11 doi: 10.1002/humu.23536. PMID: 29691940Free PMC Article
LaDuca H, Farwell KD, Vuong H, Lu HM, Mu W, Shahmirzadi L, Tang S, Chen J, Bhide S, Chao EC
PLoS One 2017;12(2):e0170843. Epub 2017 Feb 2 doi: 10.1371/journal.pone.0170843. PMID: 28152038Free PMC Article
Masurel-Paulet A, Kalscheuer VM, Lebrun N, Hu H, Levy F, Thauvin-Robinet C, Darmency-Stamboul V, El Chehadeh S, Thevenon J, Chancenotte S, Ruffier-Bourdet M, Bonnet M, Pinoit JM, Huet F, Desportes V, Chelly J, Faivre L
Am J Med Genet A 2014 Mar;164A(3):789-95. Epub 2013 Dec 19 doi: 10.1002/ajmg.a.36348. PMID: 24357419

Clinical prediction guides

Hiatt SM, Trajkova S, Sebastiano MR, Partridge EC, Abidi FE, Anderson A, Ansar M, Antonarakis SE, Azadi A, Bachmann-Gagescu R, Bartuli A, Benech C, Berkowitz JL, Betti MJ, Brusco A, Cannon A, Caron G, Chen Y, Cochran ME, Coleman TF, Crenshaw MM, Cuisset L, Curry CJ, Darvish H, Demirdas S, Descartes M, Douglas J, Dyment DA, Elloumi HZ, Ermondi G, Faoucher M, Farrow EG, Felker SA, Fisher H, Hurst ACE, Joset P, Kelly MA, Kmoch S, Leadem BR, Lyons MJ, Macchiaiolo M, Magner M, Mandrile G, Mattioli F, McEown M, Meadows SK, Medne L, Meeks NJL, Montgomery S, Napier MP, Natowicz M, Newberry KM, Niceta M, Noskova L, Nowak CB, Noyes AG, Osmond M, Prijoles EJ, Pugh J, Pullano V, Quélin C, Rahimi-Aliabadi S, Rauch A, Redon S, Reymond A, Schwager CR, Sellars EA, Scheuerle AE, Shukarova-Angelovska E, Skraban C, Stolerman E, Sullivan BR, Tartaglia M, Thiffault I, Uguen K, Umaña LA, van Bever Y, van der Crabben SN, van Slegtenhorst MA, Waisfisz Q, Washington C, Rodan LH, Myers RM, Cooper GM
Am J Hum Genet 2023 Feb 2;110(2):215-227. Epub 2022 Dec 30 doi: 10.1016/j.ajhg.2022.12.007. PMID: 36586412Free PMC Article
De Luca C, Race V, Keldermans L, Bauters M, Van Esch H
Br Med Bull 2020 May 15;133(1):36-48. doi: 10.1093/bmb/ldz039. PMID: 32043524
Piché J, Van Vliet PP, Pucéat M, Andelfinger G
Cell Cycle 2019 Nov;18(21):2828-2848. Epub 2019 Sep 13 doi: 10.1080/15384101.2019.1658476. PMID: 31516082Free PMC Article
Moortgat S, Berland S, Aukrust I, Maystadt I, Baker L, Benoit V, Caro-Llopis A, Cooper NS, Debray FG, Faivre L, Gardeitchik T, Haukanes BI, Houge G, Kivuva E, Martinez F, Mehta SG, Nassogne MC, Powell-Hamilton N, Pfundt R, Rosello M, Prescott T, Vasudevan P, van Loon B, Verellen-Dumoulin C, Verloes A, Lippe CV, Wakeling E, Wilkie AOM, Wilson L, Yuen A, Study D, Low KJ, Newbury-Ecob RA
Eur J Hum Genet 2018 Jan;26(1):64-74. Epub 2017 Nov 27 doi: 10.1038/s41431-017-0038-6. PMID: 29180823Free PMC Article
LaDuca H, Farwell KD, Vuong H, Lu HM, Mu W, Shahmirzadi L, Tang S, Chen J, Bhide S, Chao EC
PLoS One 2017;12(2):e0170843. Epub 2017 Feb 2 doi: 10.1371/journal.pone.0170843. PMID: 28152038Free PMC Article

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