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Autism, susceptibility to, 1(AUTS1)

MedGen UID:
369890
Concept ID:
C1968924
Finding
Synonyms: Autism 1; Autism susceptibility 1
 
Monarch Initiative: MONDO:0800416
OMIM®: 209850

Professional guidelines

PubMed

Pascual-Morena C, Cavero-Redondo I, Martínez-Vizcaíno V, Sequí-Domínguez I, Fernández-Bravo-Rodrigo J, Jiménez-López E
J Neuromuscul Dis 2023;10(2):159-172. doi: 10.3233/JND-221586. PMID: 36565132Free PMC Article
Holmes GL
Paediatr Drugs 2021 Jan;23(1):55-73. Epub 2020 Nov 24 doi: 10.1007/s40272-020-00428-w. PMID: 33230678Free PMC Article
Styles M, Alsharshani D, Samara M, Alsharshani M, Khattab A, Qoronfleh MW, Al-Dewik NI
Front Biosci (Landmark Ed) 2020 Jun 1;25(9):1682-1717. doi: 10.2741/4873. PMID: 32472753

Recent clinical studies

Etiology

Zhou X, Feliciano P, Shu C, Wang T, Astrovskaya I, Hall JB, Obiajulu JU, Wright JR, Murali SC, Xu SX, Brueggeman L, Thomas TR, Marchenko O, Fleisch C, Barns SD, Snyder LG, Han B, Chang TS, Turner TN, Harvey WT, Nishida A, O'Roak BJ, Geschwind DH; SPARK Consortium, Michaelson JJ, Volfovsky N, Eichler EE, Shen Y, Chung WK
Nat Genet 2022 Sep;54(9):1305-1319. Epub 2022 Aug 18 doi: 10.1038/s41588-022-01148-2. PMID: 35982159Free PMC Article
Styles M, Alsharshani D, Samara M, Alsharshani M, Khattab A, Qoronfleh MW, Al-Dewik NI
Front Biosci (Landmark Ed) 2020 Jun 1;25(9):1682-1717. doi: 10.2741/4873. PMID: 32472753
Satterstrom FK, Kosmicki JA, Wang J, Breen MS, De Rubeis S, An JY, Peng M, Collins R, Grove J, Klei L, Stevens C, Reichert J, Mulhern MS, Artomov M, Gerges S, Sheppard B, Xu X, Bhaduri A, Norman U, Brand H, Schwartz G, Nguyen R, Guerrero EE, Dias C; Autism Sequencing Consortium; iPSYCH-Broad Consortium, Betancur C, Cook EH, Gallagher L, Gill M, Sutcliffe JS, Thurm A, Zwick ME, Børglum AD, State MW, Cicek AE, Talkowski ME, Cutler DJ, Devlin B, Sanders SJ, Roeder K, Daly MJ, Buxbaum JD
Cell 2020 Feb 6;180(3):568-584.e23. Epub 2020 Jan 23 doi: 10.1016/j.cell.2019.12.036. PMID: 31981491Free PMC Article
Vorstman JAS, Parr JR, Moreno-De-Luca D, Anney RJL, Nurnberger JI Jr, Hallmayer JF
Nat Rev Genet 2017 Jun;18(6):362-376. Epub 2017 Mar 6 doi: 10.1038/nrg.2017.4. PMID: 28260791
Lai MC, Lombardo MV, Baron-Cohen S
Lancet 2014 Mar 8;383(9920):896-910. Epub 2013 Sep 26 doi: 10.1016/S0140-6736(13)61539-1. PMID: 24074734

Diagnosis

Styles M, Alsharshani D, Samara M, Alsharshani M, Khattab A, Qoronfleh MW, Al-Dewik NI
Front Biosci (Landmark Ed) 2020 Jun 1;25(9):1682-1717. doi: 10.2741/4873. PMID: 32472753
Grove J, Ripke S, Als TD, Mattheisen M, Walters RK, Won H, Pallesen J, Agerbo E, Andreassen OA, Anney R, Awashti S, Belliveau R, Bettella F, Buxbaum JD, Bybjerg-Grauholm J, Bækvad-Hansen M, Cerrato F, Chambert K, Christensen JH, Churchhouse C, Dellenvall K, Demontis D, De Rubeis S, Devlin B, Djurovic S, Dumont AL, Goldstein JI, Hansen CS, Hauberg ME, Hollegaard MV, Hope S, Howrigan DP, Huang H, Hultman CM, Klei L, Maller J, Martin J, Martin AR, Moran JL, Nyegaard M, Nærland T, Palmer DS, Palotie A, Pedersen CB, Pedersen MG, dPoterba T, Poulsen JB, Pourcain BS, Qvist P, Rehnström K, Reichenberg A, Reichert J, Robinson EB, Roeder K, Roussos P, Saemundsen E, Sandin S, Satterstrom FK, Davey Smith G, Stefansson H, Steinberg S, Stevens CR, Sullivan PF, Turley P, Walters GB, Xu X; Autism Spectrum Disorder Working Group of the Psychiatric Genomics Consortium; BUPGEN; Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium; 23andMe Research Team, Stefansson K, Geschwind DH, Nordentoft M, Hougaard DM, Werge T, Mors O, Mortensen PB, Neale BM, Daly MJ, Børglum AD
Nat Genet 2019 Mar;51(3):431-444. Epub 2019 Feb 25 doi: 10.1038/s41588-019-0344-8. PMID: 30804558Free PMC Article
Iossifov I, O'Roak BJ, Sanders SJ, Ronemus M, Krumm N, Levy D, Stessman HA, Witherspoon KT, Vives L, Patterson KE, Smith JD, Paeper B, Nickerson DA, Dea J, Dong S, Gonzalez LE, Mandell JD, Mane SM, Murtha MT, Sullivan CA, Walker MF, Waqar Z, Wei L, Willsey AJ, Yamrom B, Lee YH, Grabowska E, Dalkic E, Wang Z, Marks S, Andrews P, Leotta A, Kendall J, Hakker I, Rosenbaum J, Ma B, Rodgers L, Troge J, Narzisi G, Yoon S, Schatz MC, Ye K, McCombie WR, Shendure J, Eichler EE, State MW, Wigler M
Nature 2014 Nov 13;515(7526):216-21. Epub 2014 Oct 29 doi: 10.1038/nature13908. PMID: 25363768Free PMC Article
Lai MC, Lombardo MV, Baron-Cohen S
Lancet 2014 Mar 8;383(9920):896-910. Epub 2013 Sep 26 doi: 10.1016/S0140-6736(13)61539-1. PMID: 24074734
Levy SE, Mandell DS, Schultz RT
Lancet 2009 Nov 7;374(9701):1627-38. Epub 2009 Oct 12 doi: 10.1016/S0140-6736(09)61376-3. PMID: 19819542Free PMC Article

Therapy

Bruno LP, Doddato G, Valentino F, Baldassarri M, Tita R, Fallerini C, Bruttini M, Lo Rizzo C, Mencarelli MA, Mari F, Pinto AM, Fava F, Fabbiani A, Lamacchia V, Carrer A, Caputo V, Granata S, Benetti E, Zguro K, Furini S, Renieri A, Ariani F
Int J Mol Sci 2021 Dec 14;22(24) doi: 10.3390/ijms222413439. PMID: 34948243Free PMC Article
Holmes GL
Paediatr Drugs 2021 Jan;23(1):55-73. Epub 2020 Nov 24 doi: 10.1007/s40272-020-00428-w. PMID: 33230678Free PMC Article
Brunklaus A, Du J, Steckler F, Ghanty II, Johannesen KM, Fenger CD, Schorge S, Baez-Nieto D, Wang HR, Allen A, Pan JQ, Lerche H, Heyne H, Symonds JD, Zuberi SM, Sanders S, Sheidley BR, Craiu D, Olson HE, Weckhuysen S, DeJonge P, Helbig I, Van Esch H, Busa T, Milh M, Isidor B, Depienne C, Poduri A, Campbell AJ, Dimidschstein J, Møller RS, Lal D
Epilepsia 2020 Mar;61(3):387-399. Epub 2020 Feb 23 doi: 10.1111/epi.16438. PMID: 32090326
Hviid A, Hansen JV, Frisch M, Melbye M
Ann Intern Med 2019 Apr 16;170(8):513-520. Epub 2019 Mar 5 doi: 10.7326/M18-2101. PMID: 30831578
Lonsdale D
Adv Food Nutr Res 2018;83:1-56. Epub 2018 Feb 2 doi: 10.1016/bs.afnr.2017.11.001. PMID: 29477220

Prognosis

Styles M, Alsharshani D, Samara M, Alsharshani M, Khattab A, Qoronfleh MW, Al-Dewik NI
Front Biosci (Landmark Ed) 2020 Jun 1;25(9):1682-1717. doi: 10.2741/4873. PMID: 32472753
Cross-Disorder Group of the Psychiatric Genomics Consortium. Electronic address: plee0@mgh.harvard.edu; Cross-Disorder Group of the Psychiatric Genomics Consortium
Cell 2019 Dec 12;179(7):1469-1482.e11. doi: 10.1016/j.cell.2019.11.020. PMID: 31835028Free PMC Article
Zhang J, Walsh MF, Wu G, Edmonson MN, Gruber TA, Easton J, Hedges D, Ma X, Zhou X, Yergeau DA, Wilkinson MR, Vadodaria B, Chen X, McGee RB, Hines-Dowell S, Nuccio R, Quinn E, Shurtleff SA, Rusch M, Patel A, Becksfort JB, Wang S, Weaver MS, Ding L, Mardis ER, Wilson RK, Gajjar A, Ellison DW, Pappo AS, Pui CH, Nichols KE, Downing JR
N Engl J Med 2015 Dec 10;373(24):2336-2346. Epub 2015 Nov 18 doi: 10.1056/NEJMoa1508054. PMID: 26580448Free PMC Article
Lai MC, Lombardo MV, Baron-Cohen S
Lancet 2014 Mar 8;383(9920):896-910. Epub 2013 Sep 26 doi: 10.1016/S0140-6736(13)61539-1. PMID: 24074734
Thapar A, Cooper M, Eyre O, Langley K
J Child Psychol Psychiatry 2013 Jan;54(1):3-16. Epub 2012 Sep 11 doi: 10.1111/j.1469-7610.2012.02611.x. PMID: 22963644Free PMC Article

Clinical prediction guides

Li C, Fleck JS, Martins-Costa C, Burkard TR, Themann J, Stuempflen M, Peer AM, Vertesy Á, Littleboy JB, Esk C, Elling U, Kasprian G, Corsini NS, Treutlein B, Knoblich JA
Nature 2023 Sep;621(7978):373-380. Epub 2023 Sep 13 doi: 10.1038/s41586-023-06473-y. PMID: 37704762Free PMC Article
Trost B, Thiruvahindrapuram B, Chan AJS, Engchuan W, Higginbotham EJ, Howe JL, Loureiro LO, Reuter MS, Roshandel D, Whitney J, Zarrei M, Bookman M, Somerville C, Shaath R, Abdi M, Aliyev E, Patel RV, Nalpathamkalam T, Pellecchia G, Hamdan O, Kaur G, Wang Z, MacDonald JR, Wei J, Sung WWL, Lamoureux S, Hoang N, Selvanayagam T, Deflaux N, Geng M, Ghaffari S, Bates J, Young EJ, Ding Q, Shum C, D'Abate L, Bradley CA, Rutherford A, Aguda V, Apresto B, Chen N, Desai S, Du X, Fong MLY, Pullenayegum S, Samler K, Wang T, Ho K, Paton T, Pereira SL, Herbrick JA, Wintle RF, Fuerth J, Noppornpitak J, Ward H, Magee P, Al Baz A, Kajendirarajah U, Kapadia S, Vlasblom J, Valluri M, Green J, Seifer V, Quirbach M, Rennie O, Kelley E, Masjedi N, Lord C, Szego MJ, Zawati MH, Lang M, Strug LJ, Marshall CR, Costain G, Calli K, Iaboni A, Yusuf A, Ambrozewicz P, Gallagher L, Amaral DG, Brian J, Elsabbagh M, Georgiades S, Messinger DS, Ozonoff S, Sebat J, Sjaarda C, Smith IM, Szatmari P, Zwaigenbaum L, Kushki A, Frazier TW, Vorstman JAS, Fakhro KA, Fernandez BA, Lewis MES, Weksberg R, Fiume M, Yuen RKC, Anagnostou E, Sondheimer N, Glazer D, Hartley DM, Scherer SW
Cell 2022 Nov 10;185(23):4409-4427.e18. doi: 10.1016/j.cell.2022.10.009. PMID: 36368308Free PMC Article
Fu JM, Satterstrom FK, Peng M, Brand H, Collins RL, Dong S, Wamsley B, Klei L, Wang L, Hao SP, Stevens CR, Cusick C, Babadi M, Banks E, Collins B, Dodge S, Gabriel SB, Gauthier L, Lee SK, Liang L, Ljungdahl A, Mahjani B, Sloofman L, Smirnov AN, Barbosa M, Betancur C, Brusco A, Chung BHY, Cook EH, Cuccaro ML, Domenici E, Ferrero GB, Gargus JJ, Herman GE, Hertz-Picciotto I, Maciel P, Manoach DS, Passos-Bueno MR, Persico AM, Renieri A, Sutcliffe JS, Tassone F, Trabetti E, Campos G, Cardaropoli S, Carli D, Chan MCY, Fallerini C, Giorgio E, Girardi AC, Hansen-Kiss E, Lee SL, Lintas C, Ludena Y, Nguyen R, Pavinato L, Pericak-Vance M, Pessah IN, Schmidt RJ, Smith M, Costa CIS, Trajkova S, Wang JYT, Yu MHC; Autism Sequencing Consortium (ASC); Broad Institute Center for Common Disease Genomics (Broad-CCDG); iPSYCH-BROAD Consortium, Cutler DJ, De Rubeis S, Buxbaum JD, Daly MJ, Devlin B, Roeder K, Sanders SJ, Talkowski ME
Nat Genet 2022 Sep;54(9):1320-1331. Epub 2022 Aug 18 doi: 10.1038/s41588-022-01104-0. PMID: 35982160Free PMC Article
Hviid A, Hansen JV, Frisch M, Melbye M
Ann Intern Med 2019 Apr 16;170(8):513-520. Epub 2019 Mar 5 doi: 10.7326/M18-2101. PMID: 30831578
Zhang J, Walsh MF, Wu G, Edmonson MN, Gruber TA, Easton J, Hedges D, Ma X, Zhou X, Yergeau DA, Wilkinson MR, Vadodaria B, Chen X, McGee RB, Hines-Dowell S, Nuccio R, Quinn E, Shurtleff SA, Rusch M, Patel A, Becksfort JB, Wang S, Weaver MS, Ding L, Mardis ER, Wilson RK, Gajjar A, Ellison DW, Pappo AS, Pui CH, Nichols KE, Downing JR
N Engl J Med 2015 Dec 10;373(24):2336-2346. Epub 2015 Nov 18 doi: 10.1056/NEJMoa1508054. PMID: 26580448Free PMC Article

Recent systematic reviews

Yu X, Rahman MM, Wang Z, Carter SA, Schwartz J, Chen Z, Eckel SP, Hackman D, Chen JC, Xiang AH, McConnell R
Environ Res 2022 May 15;208:112590. Epub 2021 Dec 17 doi: 10.1016/j.envres.2021.112590. PMID: 34929192
Rodriguez-Gomez DA, Garcia-Guaqueta DP, Charry-Sánchez JD, Sarquis-Buitrago E, Blanco M, Velez-van-Meerbeke A, Talero-Gutiérrez C
BMC Neurosci 2021 Oct 9;22(1):60. doi: 10.1186/s12868-021-00662-z. PMID: 34627165Free PMC Article
Tick B, Bolton P, Happé F, Rutter M, Rijsdijk F
J Child Psychol Psychiatry 2016 May;57(5):585-95. Epub 2015 Dec 27 doi: 10.1111/jcpp.12499. PMID: 26709141Free PMC Article
Rossignol DA, Genuis SJ, Frye RE
Transl Psychiatry 2014 Feb 11;4(2):e360. doi: 10.1038/tp.2014.4. PMID: 24518398Free PMC Article
Dolcetti A, Silversides CK, Marshall CR, Lionel AC, Stavropoulos DJ, Scherer SW, Bassett AS
Genet Med 2013 Apr;15(4):282-9. Epub 2012 Sep 27 doi: 10.1038/gim.2012.129. PMID: 23018752Free PMC Article

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