{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,17]],"date-time":"2026-07-17T13:07:14Z","timestamp":1784293634251,"version":"3.55.0"},"reference-count":10,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2022,3,3]],"date-time":"2022-03-03T00:00:00Z","timestamp":1646265600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100004229","name":"Fondazione Pierfranco e Luisa Mariani","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004229","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002426","name":"Fondazione Telethon","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002426","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2022,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Cant\u00f9 syndrome (CS) is a rare multisystemic disorder, characterized by congenital hypertrichosis, macrocephaly, facial dysmorphisms, cardiomegaly, vascular, and skeletal anomalies. From the cognitive point of view, most of the patients show a mild speech delay and a few of them present intellectual disability and learning difficulties. To date, most CS\u2010reported cases are caused by heterozygous <jats:italic>ABCC9<\/jats:italic> gene mutations. Only three patients with CS and heterozygous <jats:italic>KCNJ8<\/jats:italic> gene variants have been reported. The authors here present the fourth case of CS with a variant in <jats:italic>KCNJ8<\/jats:italic> in a 6\u2010month\u2010old baby. Diagnosis was reached through Trio\u2010Whole Exome analysis that revealed a de novo missense variant in <jats:italic>KCNJ8<\/jats:italic>.<\/jats:p>","DOI":"10.1002\/ajmg.a.62710","type":"journal-article","created":{"date-parts":[[2022,3,4]],"date-time":"2022-03-04T02:44:35Z","timestamp":1646361875000},"page":"1661-1666","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Cant\u00f9 syndrome: Report of a patient with a novel variant in <scp><i>KCNJ8<\/i><\/scp> and revision of literature"],"prefix":"10.1002","volume":"188","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9319-2213","authenticated-orcid":false,"given":"Erika Solansh","family":"Apuril Velgara","sequence":"first","affiliation":[{"name":"Department of Pediatric Mariani Foundation Center for Fragile Child ASST\u2010Lariana, Sant'Anna Hospital  San Fermo della Battaglia (Como) Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Milena","family":"Mariani","sequence":"additional","affiliation":[{"name":"Department of Pediatric Mariani Foundation Center for Fragile Child ASST\u2010Lariana, Sant'Anna Hospital  San Fermo della Battaglia (Como) Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annalaura","family":"Torella","sequence":"additional","affiliation":[{"name":"Department of Precision Medicine University \u201cLuigi Vanvitelli\u201d  Naples Italy"},{"name":"Telethon Institute of Genetics and Medicine (TIGEM)  Pozzuoli Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesco","family":"Musacchia","sequence":"additional","affiliation":[{"name":"Telethon Institute of Genetics and Medicine (TIGEM)  Pozzuoli Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"Telethon Undiagnosed Diseases Program (TUDP) consortium","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincenzo","family":"Nigro","sequence":"additional","affiliation":[{"name":"Department of Precision Medicine University \u201cLuigi Vanvitelli\u201d  Naples Italy"},{"name":"Telethon Institute of Genetics and Medicine (TIGEM)  Pozzuoli Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6187-3727","authenticated-orcid":false,"given":"Angelo","family":"Selicorni","sequence":"additional","affiliation":[{"name":"Department of Pediatric Mariani Foundation Center for Fragile Child ASST\u2010Lariana, Sant'Anna Hospital  San Fermo della Battaglia (Como) Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,3,3]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.40534"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.04.014"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1329"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2013.09.009"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/jdv.16384"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22555"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31753"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI130571"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCRESAHA.112.300514"},{"key":"e_1_2_6_11_1","first-page":"395","article-title":"Congenital hypertrichosis, osteocondrodysplasia and cardiomegaly: Cant\u00f9 syndrome","volume":"85","author":"Robertson S. P.","year":"1999","journal-title":"American Journal of Human Genetics"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.62710","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.62710","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.62710","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,25]],"date-time":"2023-08-25T19:44:59Z","timestamp":1692992699000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.62710"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,3,3]]},"references-count":10,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2022,6]]}},"alternative-id":["10.1002\/ajmg.a.62710"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.62710","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,3,3]]},"assertion":[{"value":"2020-12-18","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-01-28","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-03-03","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}