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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
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
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

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
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
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

Wang T, Zhang S, Luo M, Lu M, Wei L, Zhou X, Wang H, Xu D
Ecotoxicol Environ Saf 2024 Jan 1;269:115797. Epub 2023 Dec 8 doi: 10.1016/j.ecoenv.2023.115797. PMID: 38070418
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
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
Moalic JM, Le Strat Y, Lepagnol-Bestel AM, Ramoz N, Loe-Mie Y, Maussion G, Gorwood P, Simonneau M
Curr Med Chem 2010;17(13):1300-16. doi: 10.2174/092986710790936338. PMID: 20166940

Prognosis

Weng LC, Khurshid S, Hall AW, Nauffal V, Morrill VN, Sun YV, Rämö JT, Beer D, Lee S, Nadkarni G, Johnson R, Andreasen L, Clayton A, Pullinger CR, Yoneda ZT, Friedman DJ, Hyman MC, Judy RL, Skanes AC, Orland KM, Jordà P, Treu TM, Oetjens MT, Subbiah R, Hartmann JP, May HT, Kane JP, Issa TZ, Nafissi NA, Leong-Sit P, Dubé MP, Roselli C, Choi SH; FinnGen, Million Veteran Program, Regeneron Genetics Center, Tardif JC, Khan HR, Knight S, Svendsen JH, Walker B, Karlsson Linnér R, Gaziano JM, Tadros R, Fatkin D, Rader DJ, Shah SH, Roden DM, Marcus GM, Loos RJF, Damrauer SM, Haggerty CM, Cho K, Palotie A, Olesen MS, Eckhardt LL, Roberts JD, Cutler MJ, Shoemaker MB, Wilson PWF, Ellinor PT, Lubitz SA
Circ Genom Precis Med 2024 Jun;17(3):e004320. Epub 2024 May 28 doi: 10.1161/CIRCGEN.123.004320. PMID: 38804128Free PMC Article
Grimes PZ, Adams MJ, Thng G, Edmonson-Stait AJ, Lu Y, McIntosh A, Cullen B, Larsson H, Whalley HC, Kwong ASF
JAMA Psychiatry 2024 Aug 1;81(8):807-816. doi: 10.1001/jamapsychiatry.2024.0983. PMID: 38748406Free 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
Schaefer GB
Int J Mol Sci 2016 Jan 29;17(2) doi: 10.3390/ijms17020180. PMID: 26840296Free PMC Article
Gershon ES, Grennan KS
Dialogues Clin Neurosci 2015 Mar;17(1):69-78. doi: 10.31887/DCNS.2015.17.1/egershon. PMID: 25987865Free PMC Article

Clinical prediction guides

Velmans C, O'Donnell-Luria AH, Argilli E, Tran Mau-Them F, Vitobello A, Chan MC, Fung JL, Rech M, Abicht A, Aubert Mucca M, Carmichael J, Chassaing N, Clark R, Coubes C, Denommé-Pichon AS, de Dios JK, England E, Funalot B, Gerard M, Joseph M, Kennedy C, Kumps C, Willems M, van de Laar IMBH, Aarts-Tesselaar C, van Slegtenhorst M, Lehalle D, Leppig K, Lessmeier L, Pais LS, Paterson H, Ramanathan S, Rodan LH, Superti-Furga A, Chung BHY, Sherr E, Netzer C, Schaaf CP, Erger F
J Med Genet 2022 Jul;59(7):697-705. Epub 2021 Jul 28 doi: 10.1136/jmedgenet-2020-107470. PMID: 34321323Free 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
Wong H, Hoeffer C
Exp Neurol 2018 Jan;299(Pt A):228-240. Epub 2017 Apr 25 doi: 10.1016/j.expneurol.2017.04.010. PMID: 28455196Free 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
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Recent systematic reviews

Shinsato RN, Correa CG, Herai RH
Gene 2024 May 25;908:148246. Epub 2024 Feb 6 doi: 10.1016/j.gene.2024.148246. PMID: 38325665
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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