{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T19:00:31Z","timestamp":1790622031493,"version":"4.1.0"},"reference-count":26,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2019,7,18]],"date-time":"2019-07-18T00:00:00Z","timestamp":1563408000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2019,7,18]],"date-time":"2019-07-18T00:00:00Z","timestamp":1563408000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001807","name":"Funda\u00e7\u00e3o de Amparo \u00e0 Pesquisa do Estado de S\u00e3o Paulo","doi-asserted-by":"publisher","award":["2013\/08028-1; 2016\/17392-2"],"award-info":[{"award-number":["2013\/08028-1; 2016\/17392-2"]}],"id":[{"id":"10.13039\/501100001807","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003593","name":"Conselho Nacional de Desenvolvimento Cient\u00edfico e Tecnol\u00f3gico","doi-asserted-by":"publisher","award":["303712\/2016-3; 466651\/2014-7"],"award-info":[{"award-number":["303712\/2016-3; 466651\/2014-7"]}],"id":[{"id":"10.13039\/501100003593","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002322","name":"Coordena\u00e7\u00e3o de Aperfei\u00e7oamento de Pessoal de N\u00edvel Superior","doi-asserted-by":"publisher","award":["5044854"],"award-info":[{"award-number":["5044854"]}],"id":[{"id":"10.13039\/501100002322","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Neurodevelop Disord"],"published-print":{"date-parts":[[2019,12]]},"DOI":"10.1186\/s11689-019-9273-1","type":"journal-article","created":{"date-parts":[[2019,7,18]],"date-time":"2019-07-18T06:02:53Z","timestamp":1563429773000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":50,"title":["A Brazilian cohort of individuals with Phelan-McDermid syndrome: genotype-phenotype correlation and identification of an atypical case"],"prefix":"10.1186","volume":"11","author":[{"given":"Claudia Ismania","family":"Samogy-Costa","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisa","family":"Varella-Branco","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frederico","family":"Monfardini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helen","family":"Ferraz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rodrigo Ambr\u00f3sio","family":"Fock","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ricardo Henrique Almeida","family":"Barbosa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andr\u00e9 Luiz Santos","family":"Pessoa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana Beatriz Alvarez","family":"Perez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naila","family":"Louren\u00e7o","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Vibranovski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana","family":"Krepischi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carla","family":"Rosenberg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Rita","family":"Passos-Bueno","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2019,7,18]]},"reference":[{"issue":"3","key":"9273_CR1","doi-asserted-by":"publisher","first-page":"310","DOI":"10.1038\/ejhg.2012.175","volume":"21","author":"L Boccuto","year":"2013","unstructured":"Boccuto L, Lauri M, Sarasua SM, Skinner CD, Buccella D, Dwivedi A, et al. Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders. Eur J Hum Genet. 2013;21(3):310\u20136.","journal-title":"Eur J Hum Genet"},{"issue":"3\u20135","key":"9273_CR2","first-page":"186","volume":"2","author":"K Phelan","year":"2012","unstructured":"Phelan K, McDermid HE. The 22q13.3 deletion syndrome (Phelan-McDermid syndrome). Mol Syndromol. 2012;2(3\u20135):186\u2013201.","journal-title":"Mol Syndromol"},{"issue":"7","key":"9273_CR3","doi-asserted-by":"publisher","first-page":"e1002173","DOI":"10.1371\/journal.pgen.1002173","volume":"7","author":"MC Bonaglia","year":"2011","unstructured":"Bonaglia MC, Giorda R, Beri S, De Agostini C, Novara F, Fichera M, et al. Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan\/McDermid syndrome. PLoS Genet. 2011;7(7):e1002173.","journal-title":"PLoS Genet"},{"key":"9273_CR4","doi-asserted-by":"publisher","first-page":"23","DOI":"10.1186\/s13229-015-0020-5","volume":"6","author":"DM Cochoy","year":"2015","unstructured":"Cochoy DM, Kolevzon A, Kajiwara Y, Schoen M, Pascual-Lucas M, Lurie S, et al. Phenotypic and functional analysis of SHANK3 stop mutations identified in individuals with ASD and\/or ID. Mol Autism. 2015;6:23.","journal-title":"Mol Autism"},{"issue":"3","key":"9273_CR5","doi-asserted-by":"publisher","first-page":"147","DOI":"10.1038\/nrn.2016.183","volume":"18","author":"P Monteiro","year":"2017","unstructured":"Monteiro P, Feng G. SHANK proteins: roles at the synapse and in autism spectrum disorder. Nat Rev Neurosci. 2017;18(3):147\u201357.","journal-title":"Nat Rev Neurosci"},{"key":"9273_CR6","doi-asserted-by":"publisher","first-page":"32","DOI":"10.1038\/s41525-017-0035-2","volume":"2","author":"A-C Tabet","year":"2017","unstructured":"Tabet A-C, Rolland T, Ducloy M, L\u00e9vy J, Buratti J, Mathieu A, et al. A framework to identify contributing genes in patients with Phelan-McDermid syndrome. NPJ Genom Med. 2017;2:32.","journal-title":"NPJ Genom Med"},{"issue":"3","key":"9273_CR7","doi-asserted-by":"publisher","first-page":"293","DOI":"10.1038\/s41431-017-0042-x","volume":"26","author":"AR Mitz","year":"2018","unstructured":"Mitz AR, Philyaw TJ, Boccuto L, Shcheglovitov A, Sarasua SM, Kaufmann WE, et al. Identification of 22q13 genes most likely to contribute to Phelan McDermid syndrome. Eur J Hum Genet. 2018;26(3):293\u2013302.","journal-title":"Eur J Hum Genet"},{"issue":"11","key":"9273_CR8","doi-asserted-by":"publisher","first-page":"761","DOI":"10.1136\/jmedgenet-2011-100225","volume":"48","author":"SM Sarasua","year":"2011","unstructured":"Sarasua SM, Dwivedi A, Boccuto L, Rollins JD, Chen C-F, Rogers RC, et al. Association between deletion size and important phenotypes expands the genomic region of interest in Phelan-McDermid syndrome (22q13 deletion syndrome). J Med Genet. 2011;48(11):761\u20136.","journal-title":"J Med Genet"},{"issue":"7","key":"9273_CR9","doi-asserted-by":"publisher","first-page":"847","DOI":"10.1007\/s00439-014-1423-7","volume":"133","author":"SM Sarasua","year":"2014","unstructured":"Sarasua SM, Boccuto L, Sharp JL, Dwivedi A, Chen C-F, Rollins JD, et al. Clinical and genomic evaluation of 201 patients with Phelan-McDermid syndrome. Hum Genet. 2014;133(7):847\u201359.","journal-title":"Hum Genet"},{"issue":"1","key":"9273_CR10","doi-asserted-by":"publisher","first-page":"18","DOI":"10.1186\/2040-2392-4-18","volume":"4","author":"L Soorya","year":"2013","unstructured":"Soorya L, Kolevzon A, Zweifach J, Lim T, Dobry Y, Schwartz L, et al. Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency. Mol Autism. 2013;4(1):18.","journal-title":"Mol Autism"},{"issue":"3","key":"9273_CR11","doi-asserted-by":"publisher","first-page":"573","DOI":"10.1002\/ajmg.a.33253","volume":"152A","author":"SU Dhar","year":"2010","unstructured":"Dhar SU, del Gaudio D, German JR, Peters SU, Ou Z, Bader PI, et al. 22q13.3 deletion syndrome: clinical and molecular analysis using array CGH. Am J Med Genet A. 2010;152A(3):573\u201381.","journal-title":"Am J Med Genet A"},{"issue":"9","key":"9273_CR12","doi-asserted-by":"publisher","first-page":"e107705","DOI":"10.1371\/journal.pone.0107705","volume":"9","author":"DP Moreira","year":"2014","unstructured":"Moreira DP, Griesi-Oliveira K, Bossolani-Martins AL, NCV L, VNO T, da Rocha KM, et al. Investigation of 15q11-q13, 16p11.2 and 22q13 CNVs in autism spectrum disorder Brazilian individuals with and without epilepsy. PLoS One. 2014;9(9):e107705.","journal-title":"PLoS One"},{"issue":"1","key":"9273_CR13","doi-asserted-by":"publisher","first-page":"R24","DOI":"10.1186\/bcr3109","volume":"14","author":"AC Krepischi","year":"2012","unstructured":"Krepischi AC, Achatz MIW, Santos EM, Costa SS, Lisboa BC, Brentani H, et al. Germline DNA copy number variation in familial and early-onset breast cancer. Breast Cancer Res. 2012;14(1):R24.","journal-title":"Breast Cancer Res"},{"issue":"7","key":"9273_CR14","doi-asserted-by":"publisher","first-page":"680","DOI":"10.1097\/GIM.0b013e3182217a3a","volume":"13","author":"HM Kearney","year":"2011","unstructured":"Kearney HM, Thorland EC, Brown KK, Quintero-Rivera F, South ST. Working Group of the American College of medical genetics laboratory quality assurance committee. American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants. Genet Med. 2011;13(7):680\u20135.","journal-title":"Genet Med"},{"issue":"1","key":"9273_CR15","doi-asserted-by":"publisher","first-page":"39","DOI":"10.1186\/1866-1955-6-39","volume":"6","author":"A Kolevzon","year":"2014","unstructured":"Kolevzon A, Angarita B, Bush L, Wang AT, Frank Y, Yang A, et al. Phelan-McDermid syndrome: a review of the literature and practice parameters for medical assessment and monitoring. J Neurodev Disord. 2014;6(1):39.","journal-title":"J Neurodev Disord"},{"issue":"1","key":"9273_CR16","doi-asserted-by":"publisher","first-page":"31","DOI":"10.1186\/s13229-018-0205-9","volume":"9","author":"S De Rubeis","year":"2018","unstructured":"De Rubeis S, Siper PM, Durkin A, Weissman J, Muratet F, Halpern D, et al. Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations. Mol Autism. 2018;9(1):31.","journal-title":"Mol Autism"},{"issue":"3","key":"9273_CR17","doi-asserted-by":"publisher","first-page":"195","DOI":"10.1002\/(SICI)1096-8628(20000529)92:3<195::AID-AJMG7>3.0.CO;2-D","volume":"92","author":"Y Fujita","year":"2000","unstructured":"Fujita Y, Mochizuki D, Mori Y, Nakamoto N, Kobayashi M, Omi K, et al. Girl with accelerated growth, hearing loss, inner ear anomalies, delayed myelination of the brain, and del (22)(q13.1q13.2). Am J Med Genet. 2000;92(3):195\u20139.","journal-title":"Am J Med Genet"},{"key":"9273_CR18","doi-asserted-by":"publisher","first-page":"121","DOI":"10.1016\/j.ijporl.2016.12.008","volume":"95","author":"JF Ha","year":"2017","unstructured":"Ha JF, Ahmad A, Lesperance MM. Clinical characterization of novel chromosome 22q13 microdeletions. Int J Pediatr Otorhinolaryngol. 2017;95:121\u20136.","journal-title":"Int J Pediatr Otorhinolaryngol"},{"issue":"3","key":"9273_CR19","doi-asserted-by":"publisher","first-page":"766","DOI":"10.1002\/ajmg.a.37494","volume":"170","author":"MIB Fontes","year":"2016","unstructured":"Fontes MIB, Santos AP, Molck MC, Simioni M, Nascimento DLL, Andrade AKM, et al. Genotype-phenotype correlation of 16p13.3 terminal duplication and 22q13.33 deletion: natural history of a patient and review of the literature. Am J Med Genet A. 2016;170(3):766\u201372.","journal-title":"Am J Med Genet A"},{"issue":"1","key":"9273_CR20","doi-asserted-by":"publisher","first-page":"26","DOI":"10.1016\/j.ejmg.2012.09.005","volume":"56","author":"B Demeer","year":"2013","unstructured":"Demeer B, Andrieux J, Receveur A, Morin G, Petit F, Julia S, et al. Duplication 16p13.3 and the CREBBP gene: confirmation of the phenotype. Eur J Med Genet. 2013;56(1):26\u201331.","journal-title":"Eur J Med Genet"},{"issue":"4","key":"9273_CR21","first-page":"393","volume":"26","author":"BB Geckinli","year":"2015","unstructured":"Geckinli BB, Aydin H, Karaman A, Delil K, Simsek H, Gokmeydan E, et al. Clinical report of a patient with de novo trisomy 12q23.1q24.33. Genet Couns. 2015;26(4):393\u2013400.","journal-title":"Genet Couns"},{"issue":"3","key":"9273_CR22","doi-asserted-by":"publisher","first-page":"191","DOI":"10.1097\/01.mcd.0000134479.65125.08","volume":"13","author":"AJ Barakat","year":"2004","unstructured":"Barakat AJ, Pearl PL, Acosta MT, Runkle BP. 22q13 deletion syndrome with central diabetes insipidus: a previously unreported association. Clin Dysmorphol. 2004;13(3):191\u20134.","journal-title":"Clin Dysmorphol"},{"issue":"3","key":"9273_CR23","doi-asserted-by":"publisher","first-page":"620","DOI":"10.1007\/s13311-015-0352-z","volume":"12","author":"JL Costales","year":"2015","unstructured":"Costales JL, Kolevzon A. Phelan-McDermid syndrome and SHANK3: implications for treatment. Neurotherapeutics. 2015;12(3):620\u201330.","journal-title":"Neurotherapeutics"},{"issue":"1","key":"9273_CR24","doi-asserted-by":"publisher","first-page":"146","DOI":"10.1038\/s41398-018-0212-9","volume":"8","author":"L Ponson","year":"2018","unstructured":"Ponson L, Gomot M, Blanc R, Barthelemy C, Roux S, Munnich A, et al. 22q13 deletion syndrome: communication disorder or autism? Evidence from a specific clinical and neurophysiological phenotype. Transl Psychiatry. 2018;8(1):146.","journal-title":"Transl Psychiatry"},{"issue":"9","key":"9273_CR25","doi-asserted-by":"publisher","first-page":"e1004580","DOI":"10.1371\/journal.pgen.1004580","volume":"10","author":"CS Leblond","year":"2014","unstructured":"Leblond CS, Nava C, Polge A, Gauthier J, Huguet G, Lumbroso S, et al. Meta-analysis of SHANK mutations in autism spectrum disorders: a gradient of severity in cognitive impairments. PLoS Genet. 2014;10(9):e1004580.","journal-title":"PLoS Genet"},{"issue":"6","key":"9273_CR26","doi-asserted-by":"publisher","first-page":"1289","DOI":"10.1086\/522590","volume":"81","author":"R Moessner","year":"2007","unstructured":"Moessner R, Marshall CR, Sutcliffe JS, Skaug J, Pinto D, Vincent J, et al. Contribution of SHANK3 mutations to autism spectrum disorder. Am J Hum Genet. 2007;81(6):1289\u201397.","journal-title":"Am J Hum Genet"}],"container-title":["Journal of Neurodevelopmental Disorders"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/s11689-019-9273-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1186\/s11689-019-9273-1\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/s11689-019-9273-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,7,16]],"date-time":"2020-07-16T23:06:43Z","timestamp":1594940803000},"score":1,"resource":{"primary":{"URL":"https:\/\/jneurodevdisorders.biomedcentral.com\/articles\/10.1186\/s11689-019-9273-1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,7,18]]},"references-count":26,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2019,12]]}},"alternative-id":["9273"],"URL":"https:\/\/doi.org\/10.1186\/s11689-019-9273-1","relation":{},"ISSN":["1866-1947","1866-1955"],"issn-type":[{"value":"1866-1947","type":"print"},{"value":"1866-1955","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,7,18]]},"assertion":[{"value":"11 February 2019","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"7 July 2019","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"18 July 2019","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"All study participants signed the written informed consent, and the genetic study has been positively reviewed by the ethics committee of the Brazilian National Research Ethics Commission (CAAE43559314.0.0000.5464).","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"All individuals\/families agree to publish the presented work.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no competing interests.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"13"}}