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Autism, susceptibility to, 17(AUTS17)

MedGen UID:
462043
Concept ID:
C3150693
Finding
Synonyms: Autism 17; Autism susceptibility 17
 
Gene (location): SHANK2 (11q13.3-13.4)
 
Monarch Initiative: MONDO:0013265
OMIM®: 613436

Definition

Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypic, and ritualized patterns of interests and behavior (Bailey et al., 1996; Risch et al., 1999). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; 608638) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Impaired intellectual development (IDD) coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in IDD is conspicuously absent (Jones et al., 2008). Genetic studies in autism often include family members with these less stringent diagnoses (Schellenberg et al., 2006). For a discussion of genetic heterogeneity of autism, see 209850. [from OMIM]

Professional guidelines

PubMed

AlKalaf HY, AlHashem AM, AlSaleh NS, AlJohar NM, Abo Thneen AM, ElGhezal HM, Bouhjar IB, Tlili-Graiess K, Sahari AH, Tabarki BM
Neurosciences (Riyadh) 2020 Aug;25(4):287-291. doi: 10.17712/nsj.2020.4.20200045. PMID: 33130809Free PMC Article
D'Souza H, Mason L, Mok KY, Startin CM, Hamburg S, Hithersay R, Baksh RA, Hardy J, Strydom A, Thomas MSC; London Down Syndrome (LonDownS) Consortium
JAMA Netw Open 2020 Sep 1;3(9):e2018221. doi: 10.1001/jamanetworkopen.2020.18221. PMID: 32986108Free PMC Article
Chen WJ, Zhao S, Huang TY, Kwok OM, Chen LS
Int J Environ Res Public Health 2020 Jan 11;17(2) doi: 10.3390/ijerph17020476. PMID: 31940763Free PMC Article

Recent clinical studies

Etiology

Wang T, Hoekzema K, Vecchio D, Wu H, Sulovari A, Coe BP, Gillentine MA, Wilfert AB, Perez-Jurado LA, Kvarnung M, Sleyp Y, Earl RK, Rosenfeld JA, Geisheker MR, Han L, Du B, Barnett C, Thompson E, Shaw M, Carroll R, Friend K, Catford R, Palmer EE, Zou X, Ou J, Li H, Guo H, Gerdts J, Avola E, Calabrese G, Elia M, Greco D, Lindstrand A, Nordgren A, Anderlid BM, Vandeweyer G, Van Dijck A, Van der Aa N, McKenna B, Hancarova M, Bendova S, Havlovicova M, Malerba G, Bernardina BD, Muglia P, van Haeringen A, Hoffer MJV, Franke B, Cappuccio G, Delatycki M, Lockhart PJ, Manning MA, Liu P, Scheffer IE, Brunetti-Pierri N, Rommelse N, Amaral DG, Santen GWE, Trabetti E, Sedláček Z, Michaelson JJ, Pierce K, Courchesne E, Kooy RF; SPARK Consortium, Nordenskjöld M, Romano C, Peeters H, Bernier RA, Gecz J, Xia K, Eichler EE
Nat Commun 2020 Oct 1;11(1):4932. doi: 10.1038/s41467-020-18723-y. PMID: 33004838Free PMC Article
Taylor MJ, Rosenqvist MA, Larsson H, Gillberg C, D'Onofrio BM, Lichtenstein P, Lundström S
JAMA Psychiatry 2020 Sep 1;77(9):936-943. doi: 10.1001/jamapsychiatry.2020.0680. PMID: 32374377Free PMC Article
Bai D, Yip BHK, Windham GC, Sourander A, Francis R, Yoffe R, Glasson E, Mahjani B, Suominen A, Leonard H, Gissler M, Buxbaum JD, Wong K, Schendel D, Kodesh A, Breshnahan M, Levine SZ, Parner ET, Hansen SN, Hultman C, Reichenberg A, Sandin S
JAMA Psychiatry 2019 Oct 1;76(10):1035-1043. doi: 10.1001/jamapsychiatry.2019.1411. PMID: 31314057Free PMC Article
Hibar DP, Adams HHH, Jahanshad N, Chauhan G, Stein JL, Hofer E, Renteria ME, Bis JC, Arias-Vasquez A, Ikram MK, Desrivières S, Vernooij MW, Abramovic L, Alhusaini S, Amin N, Andersson M, Arfanakis K, Aribisala BS, Armstrong NJ, Athanasiu L, Axelsson T, Beecham AH, Beiser A, Bernard M, Blanton SH, Bohlken MM, Boks MP, Bralten J, Brickman AM, Carmichael O, Chakravarty MM, Chen Q, Ching CRK, Chouraki V, Cuellar-Partida G, Crivello F, Den Braber A, Doan NT, Ehrlich S, Giddaluru S, Goldman AL, Gottesman RF, Grimm O, Griswold ME, Guadalupe T, Gutman BA, Hass J, Haukvik UK, Hoehn D, Holmes AJ, Hoogman M, Janowitz D, Jia T, Jørgensen KN, Karbalai N, Kasperaviciute D, Kim S, Klein M, Kraemer B, Lee PH, Liewald DCM, Lopez LM, Luciano M, Macare C, Marquand AF, Matarin M, Mather KA, Mattheisen M, McKay DR, Milaneschi Y, Muñoz Maniega S, Nho K, Nugent AC, Nyquist P, Loohuis LMO, Oosterlaan J, Papmeyer M, Pirpamer L, Pütz B, Ramasamy A, Richards JS, Risacher SL, Roiz-Santiañez R, Rommelse N, Ropele S, Rose EJ, Royle NA, Rundek T, Sämann PG, Saremi A, Satizabal CL, Schmaal L, Schork AJ, Shen L, Shin J, Shumskaya E, Smith AV, Sprooten E, Strike LT, Teumer A, Tordesillas-Gutierrez D, Toro R, Trabzuni D, Trompet S, Vaidya D, Van der Grond J, Van der Lee SJ, Van der Meer D, Van Donkelaar MMJ, Van Eijk KR, Van Erp TGM, Van Rooij D, Walton E, Westlye LT, Whelan CD, Windham BG, Winkler AM, Wittfeld K, Woldehawariat G, Wolf C, Wolfers T, Yanek LR, Yang J, Zijdenbos A, Zwiers MP, Agartz I, Almasy L, Ames D, Amouyel P, Andreassen OA, Arepalli S, Assareh AA, Barral S, Bastin ME, Becker DM, Becker JT, Bennett DA, Blangero J, van Bokhoven H, Boomsma DI, Brodaty H, Brouwer RM, Brunner HG, Buckner RL, Buitelaar JK, Bulayeva KB, Cahn W, Calhoun VD, Cannon DM, Cavalleri GL, Cheng CY, Cichon S, Cookson MR, Corvin A, Crespo-Facorro B, Curran JE, Czisch M, Dale AM, Davies GE, De Craen AJM, De Geus EJC, De Jager PL, De Zubicaray GI, Deary IJ, Debette S, DeCarli C, Delanty N, Depondt C, DeStefano A, Dillman A, Djurovic S, Donohoe G, Drevets WC, Duggirala R, Dyer TD, Enzinger C, Erk S, Espeseth T, Fedko IO, Fernández G, Ferrucci L, Fisher SE, Fleischman DA, Ford I, Fornage M, Foroud TM, Fox PT, Francks C, Fukunaga M, Gibbs JR, Glahn DC, Gollub RL, Göring HHH, Green RC, Gruber O, Gudnason V, Guelfi S, Håberg AK, Hansell NK, Hardy J, Hartman CA, Hashimoto R, Hegenscheid K, Heinz A, Le Hellard S, Hernandez DG, Heslenfeld DJ, Ho BC, Hoekstra PJ, Hoffmann W, Hofman A, Holsboer F, Homuth G, Hosten N, Hottenga JJ, Huentelman M, Hulshoff Pol HE, Ikeda M, Jack CR Jr, Jenkinson M, Johnson R, Jönsson EG, Jukema JW, Kahn RS, Kanai R, Kloszewska I, Knopman DS, Kochunov P, Kwok JB, Lawrie SM, Lemaître H, Liu X, Longo DL, Lopez OL, Lovestone S, Martinez O, Martinot JL, Mattay VS, McDonald C, McIntosh AM, McMahon FJ, McMahon KL, Mecocci P, Melle I, Meyer-Lindenberg A, Mohnke S, Montgomery GW, Morris DW, Mosley TH, Mühleisen TW, Müller-Myhsok B, Nalls MA, Nauck M, Nichols TE, Niessen WJ, Nöthen MM, Nyberg L, Ohi K, Olvera RL, Ophoff RA, Pandolfo M, Paus T, Pausova Z, Penninx BWJH, Pike GB, Potkin SG, Psaty BM, Reppermund S, Rietschel M, Roffman JL, Romanczuk-Seiferth N, Rotter JI, Ryten M, Sacco RL, Sachdev PS, Saykin AJ, Schmidt R, Schmidt H, Schofield PR, Sigursson S, Simmons A, Singleton A, Sisodiya SM, Smith C, Smoller JW, Soininen H, Steen VM, Stott DJ, Sussmann JE, Thalamuthu A, Toga AW, Traynor BJ, Troncoso J, Tsolaki M, Tzourio C, Uitterlinden AG, Hernández MCV, Van der Brug M, van der Lugt A, van der Wee NJA, Van Haren NEM, van 't Ent D, Van Tol MJ, Vardarajan BN, Vellas B, Veltman DJ, Völzke H, Walter H, Wardlaw JM, Wassink TH, Weale ME, Weinberger DR, Weiner MW, Wen W, Westman E, White T, Wong TY, Wright CB, Zielke RH, Zonderman AB, Martin NG, Van Duijn CM, Wright MJ, Longstreth WT, Schumann G, Grabe HJ, Franke B, Launer LJ, Medland SE, Seshadri S, Thompson PM, Ikram MA
Nat Commun 2017 Jan 18;8:13624. doi: 10.1038/ncomms13624. PMID: 28098162Free PMC Article
Sandin S, Lichtenstein P, Kuja-Halkola R, Larsson H, Hultman CM, Reichenberg A
JAMA 2014 May 7;311(17):1770-7. doi: 10.1001/jama.2014.4144. PMID: 24794370Free PMC Article

Diagnosis

Bai D, Yip BHK, Windham GC, Sourander A, Francis R, Yoffe R, Glasson E, Mahjani B, Suominen A, Leonard H, Gissler M, Buxbaum JD, Wong K, Schendel D, Kodesh A, Breshnahan M, Levine SZ, Parner ET, Hansen SN, Hultman C, Reichenberg A, Sandin S
JAMA Psychiatry 2019 Oct 1;76(10):1035-1043. doi: 10.1001/jamapsychiatry.2019.1411. PMID: 31314057Free PMC Article
Hansen SN, Schendel DE, Francis RW, Windham GC, Bresnahan M, Levine SZ, Reichenberg A, Gissler M, Kodesh A, Bai D, Yip BHK, Leonard H, Sandin S, Buxbaum JD, Hultman C, Sourander A, Glasson EJ, Wong K, Öberg R, Parner ET
J Am Acad Child Adolesc Psychiatry 2019 Sep;58(9):866-875. Epub 2019 Mar 6 doi: 10.1016/j.jaac.2018.11.017. PMID: 30851399Free PMC Article
Mold M, Umar D, King A, Exley C
J Trace Elem Med Biol 2018 Mar;46:76-82. Epub 2017 Nov 26 doi: 10.1016/j.jtemb.2017.11.012. PMID: 29413113
McCarroll SA, Feng G, Hyman SE
Nat Neurosci 2014 Jun;17(6):756-63. Epub 2014 May 27 doi: 10.1038/nn.3716. PMID: 24866041Free PMC Article
Sandin S, Lichtenstein P, Kuja-Halkola R, Larsson H, Hultman CM, Reichenberg A
JAMA 2014 May 7;311(17):1770-7. doi: 10.1001/jama.2014.4144. PMID: 24794370Free PMC Article

Therapy

Socrates AJ, Mullins N, Gur RC, Gur RE, Stahl E, O'Reilly PF, Reichenberg A, Jones H, Zammit S, Velthorst E
Mol Psychiatry 2024 Nov;29(11):3599-3606. Epub 2024 May 30 doi: 10.1038/s41380-024-02617-2. PMID: 38811692
Dhulkifle H, Agouni A, Zeidan A, Al-Kuwari MS, Parray A, Tolefat M, Korashy HM
Int J Mol Sci 2021 Aug 26;22(17) doi: 10.3390/ijms22179258. PMID: 34502168Free PMC Article
Cristofori F, Dargenio VN, Dargenio C, Miniello VL, Barone M, Francavilla R
Front Immunol 2021;12:578386. Epub 2021 Feb 26 doi: 10.3389/fimmu.2021.578386. PMID: 33717063Free PMC Article
Pavlides JM, Zhu Z, Gratten J, McRae AF, Wray NR, Yang J
Genome Med 2016 Aug 9;8(1):84. doi: 10.1186/s13073-016-0338-4. PMID: 27506385Free PMC Article
Theoharides TC, Tsilioni I, Patel AB, Doyle R
Transl Psychiatry 2016 Jun 28;6(6):e844. doi: 10.1038/tp.2016.77. PMID: 27351598Free PMC Article

Prognosis

Iwafuchi S, Kikuchi A, Endo W, Inui T, Aihara Y, Satou K, Kaname T, Kure S
Brain Dev 2021 Feb;43(2):303-307. Epub 2020 Oct 21 doi: 10.1016/j.braindev.2020.09.015. PMID: 33097317
Taylor MJ, Rosenqvist MA, Larsson H, Gillberg C, D'Onofrio BM, Lichtenstein P, Lundström S
JAMA Psychiatry 2020 Sep 1;77(9):936-943. doi: 10.1001/jamapsychiatry.2020.0680. PMID: 32374377Free PMC Article
Den K, Kato M, Yamaguchi T, Miyatake S, Takata A, Mizuguchi T, Miyake N, Mitsuhashi S, Matsumoto N
J Hum Genet 2019 Aug;64(8):821-827. Epub 2019 May 20 doi: 10.1038/s10038-019-0617-1. PMID: 31110234
Geisheker MR, Heymann G, Wang T, Coe BP, Turner TN, Stessman HAF, Hoekzema K, Kvarnung M, Shaw M, Friend K, Liebelt J, Barnett C, Thompson EM, Haan E, Guo H, Anderlid BM, Nordgren A, Lindstrand A, Vandeweyer G, Alberti A, Avola E, Vinci M, Giusto S, Pramparo T, Pierce K, Nalabolu S, Michaelson JJ, Sedlacek Z, Santen GWE, Peeters H, Hakonarson H, Courchesne E, Romano C, Kooy RF, Bernier RA, Nordenskjöld M, Gecz J, Xia K, Zweifel LS, Eichler EE
Nat Neurosci 2017 Aug;20(8):1043-1051. Epub 2017 Jun 19 doi: 10.1038/nn.4589. PMID: 28628100Free PMC Article
Pavlides JM, Zhu Z, Gratten J, McRae AF, Wray NR, Yang J
Genome Med 2016 Aug 9;8(1):84. doi: 10.1186/s13073-016-0338-4. PMID: 27506385Free PMC Article

Clinical prediction guides

Den K, Kato M, Yamaguchi T, Miyatake S, Takata A, Mizuguchi T, Miyake N, Mitsuhashi S, Matsumoto N
J Hum Genet 2019 Aug;64(8):821-827. Epub 2019 May 20 doi: 10.1038/s10038-019-0617-1. PMID: 31110234
Hansen SN, Schendel DE, Francis RW, Windham GC, Bresnahan M, Levine SZ, Reichenberg A, Gissler M, Kodesh A, Bai D, Yip BHK, Leonard H, Sandin S, Buxbaum JD, Hultman C, Sourander A, Glasson EJ, Wong K, Öberg R, Parner ET
J Am Acad Child Adolesc Psychiatry 2019 Sep;58(9):866-875. Epub 2019 Mar 6 doi: 10.1016/j.jaac.2018.11.017. PMID: 30851399Free PMC Article
Mold M, Umar D, King A, Exley C
J Trace Elem Med Biol 2018 Mar;46:76-82. Epub 2017 Nov 26 doi: 10.1016/j.jtemb.2017.11.012. PMID: 29413113
Geisheker MR, Heymann G, Wang T, Coe BP, Turner TN, Stessman HAF, Hoekzema K, Kvarnung M, Shaw M, Friend K, Liebelt J, Barnett C, Thompson EM, Haan E, Guo H, Anderlid BM, Nordgren A, Lindstrand A, Vandeweyer G, Alberti A, Avola E, Vinci M, Giusto S, Pramparo T, Pierce K, Nalabolu S, Michaelson JJ, Sedlacek Z, Santen GWE, Peeters H, Hakonarson H, Courchesne E, Romano C, Kooy RF, Bernier RA, Nordenskjöld M, Gecz J, Xia K, Zweifel LS, Eichler EE
Nat Neurosci 2017 Aug;20(8):1043-1051. Epub 2017 Jun 19 doi: 10.1038/nn.4589. PMID: 28628100Free PMC Article
Marshall CR, Howrigan DP, Merico D, Thiruvahindrapuram B, Wu W, Greer DS, Antaki D, Shetty A, Holmans PA, Pinto D, Gujral M, Brandler WM, Malhotra D, Wang Z, Fajarado KVF, Maile MS, Ripke S, Agartz I, Albus M, Alexander M, Amin F, Atkins J, Bacanu SA, Belliveau RA Jr, Bergen SE, Bertalan M, Bevilacqua E, Bigdeli TB, Black DW, Bruggeman R, Buccola NG, Buckner RL, Bulik-Sullivan B, Byerley W, Cahn W, Cai G, Cairns MJ, Campion D, Cantor RM, Carr VJ, Carrera N, Catts SV, Chambert KD, Cheng W, Cloninger CR, Cohen D, Cormican P, Craddock N, Crespo-Facorro B, Crowley JJ, Curtis D, Davidson M, Davis KL, Degenhardt F, Del Favero J, DeLisi LE, Dikeos D, Dinan T, Djurovic S, Donohoe G, Drapeau E, Duan J, Dudbridge F, Eichhammer P, Eriksson J, Escott-Price V, Essioux L, Fanous AH, Farh KH, Farrell MS, Frank J, Franke L, Freedman R, Freimer NB, Friedman JI, Forstner AJ, Fromer M, Genovese G, Georgieva L, Gershon ES, Giegling I, Giusti-Rodríguez P, Godard S, Goldstein JI, Gratten J, de Haan L, Hamshere ML, Hansen M, Hansen T, Haroutunian V, Hartmann AM, Henskens FA, Herms S, Hirschhorn JN, Hoffmann P, Hofman A, Huang H, Ikeda M, Joa I, Kähler AK, Kahn RS, Kalaydjieva L, Karjalainen J, Kavanagh D, Keller MC, Kelly BJ, Kennedy JL, Kim Y, Knowles JA, Konte B, Laurent C, Lee P, Lee SH, Legge SE, Lerer B, Levy DL, Liang KY, Lieberman J, Lönnqvist J, Loughland CM, Magnusson PKE, Maher BS, Maier W, Mallet J, Mattheisen M, Mattingsdal M, McCarley RW, McDonald C, McIntosh AM, Meier S, Meijer CJ, Melle I, Mesholam-Gately RI, Metspalu A, Michie PT, Milani L, Milanova V, Mokrab Y, Morris DW, Müller-Myhsok B, Murphy KC, Murray RM, Myin-Germeys I, Nenadic I, Nertney DA, Nestadt G, Nicodemus KK, Nisenbaum L, Nordin A, O'Callaghan E, O'Dushlaine C, Oh SY, Olincy A, Olsen L, O'Neill FA, Van Os J, Pantelis C, Papadimitriou GN, Parkhomenko E, Pato MT, Paunio T; Psychosis Endophenotypes International Consortium, Perkins DO, Pers TH, Pietiläinen O, Pimm J, Pocklington AJ, Powell J, Price A, Pulver AE, Purcell SM, Quested D, Rasmussen HB, Reichenberg A, Reimers MA, Richards AL, Roffman JL, Roussos P, Ruderfer DM, Salomaa V, Sanders AR, Savitz A, Schall U, Schulze TG, Schwab SG, Scolnick EM, Scott RJ, Seidman LJ, Shi J, Silverman JM, Smoller JW, Söderman E, Spencer CCA, Stahl EA, Strengman E, Strohmaier J, Stroup TS, Suvisaari J, Svrakic DM, Szatkiewicz JP, Thirumalai S, Tooney PA, Veijola J, Visscher PM, Waddington J, Walsh D, Webb BT, Weiser M, Wildenauer DB, Williams NM, Williams S, Witt SH, Wolen AR, Wormley BK, Wray NR, Wu JQ, Zai CC, Adolfsson R, Andreassen OA, Blackwood DHR, Bramon E, Buxbaum JD, Cichon S, Collier DA, Corvin A, Daly MJ, Darvasi A, Domenici E, Esko T, Gejman PV, Gill M, Gurling H, Hultman CM, Iwata N, Jablensky AV, Jönsson EG, Kendler KS, Kirov G, Knight J, Levinson DF, Li QS, McCarroll SA, McQuillin A, Moran JL, Mowry BJ, Nöthen MM, Ophoff RA, Owen MJ, Palotie A, Pato CN, Petryshen TL, Posthuma D, Rietschel M, Riley BP, Rujescu D, Sklar P, St Clair D, Walters JTR, Werge T, Sullivan PF, O'Donovan MC, Scherer SW, Neale BM, Sebat J; CNV and Schizophrenia Working Groups of the Psychiatric Genomics Consortium
Nat Genet 2017 Jan;49(1):27-35. Epub 2016 Nov 21 doi: 10.1038/ng.3725. PMID: 27869829Free PMC Article

Recent systematic reviews

Hernández-García I, Chamorro AJ, Ternavasio-de la Vega HG, Carbonell C, Marcos M, Mirón-Canelo JA
Int J Environ Res Public Health 2020 Oct 30;17(21) doi: 10.3390/ijerph17218010. PMID: 33143244Free PMC Article
Lionetti E, Francavilla R, Pavone P, Pavone L, Francavilla T, Pulvirenti A, Giugno R, Ruggieri M
Dev Med Child Neurol 2010 Aug;52(8):700-7. Epub 2010 Mar 19 doi: 10.1111/j.1469-8749.2010.03647.x. PMID: 20345955

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