{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,8]],"date-time":"2026-03-08T19:09:54Z","timestamp":1772996994233,"version":"3.50.1"},"reference-count":14,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2022,4,4]],"date-time":"2022-04-04T00:00:00Z","timestamp":1649030400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2022,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Smith Magenis syndrome (SMS) is a rare neurobehavioral disorder caused by 17p11.2 microdeletion encompassing Retinoic Acid\u2010Induced 1 (<jats:italic>RAI1<\/jats:italic>) gene (90% of cases) or by <jats:italic>RAI1<\/jats:italic> point mutation (10% of cases). The neuropsychological phenotype of individuals with 17p11.2 deletion and in those with <jats:italic>RAI1<\/jats:italic> variants mostly overlaps. However, cardiac defects have been described only in patients with a deletion so far. Here, we present the first case of a patient affected by SMS caused by <jats:italic>RAI1<\/jats:italic> variant in whom a severe congenital pulmonary valve stenosis was diagnosed at birth, requiring trans catheter dilatation in the first month of life. This case expands the phenotypic spectrum associated with <jats:italic>RAI1<\/jats:italic> variants in SMS, describing a previously unreported association with a congenital heart disease.<\/jats:p>","DOI":"10.1002\/ajmg.a.62740","type":"journal-article","created":{"date-parts":[[2022,4,4]],"date-time":"2022-04-04T08:04:18Z","timestamp":1649059458000},"page":"2184-2186","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Smith Magenis syndrome: First case of congenital heart defect in a patient with <i>Rai1<\/i> mutation"],"prefix":"10.1002","volume":"188","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3128-6657","authenticated-orcid":false,"given":"Roberta","family":"Onesimo","sequence":"first","affiliation":[{"name":"Rare Diseases Unit, Fondazione Policlinico Universitario Agostino Gemelli \u2013 IRCCS  Rome Italy"},{"name":"Pediatric Unit, Fondazione Policlinico Universitario Agostino Gemelli \u2013 IRCCS  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2283-3180","authenticated-orcid":false,"given":"Angelica Bibiana","family":"Delogu","sequence":"additional","affiliation":[{"name":"Pediatric Unit, Fondazione Policlinico Universitario Agostino Gemelli \u2013 IRCCS  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2424-4240","authenticated-orcid":false,"given":"Rita","family":"Blandino","sequence":"additional","affiliation":[{"name":"Pediatric Unit, Fondazione Policlinico Universitario Agostino Gemelli \u2013 IRCCS  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4089-637X","authenticated-orcid":false,"given":"Chiara","family":"Leoni","sequence":"additional","affiliation":[{"name":"Rare Diseases Unit, Fondazione Policlinico Universitario Agostino Gemelli \u2013 IRCCS  Rome Italy"},{"name":"Pediatric Unit, Fondazione Policlinico Universitario Agostino Gemelli \u2013 IRCCS  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jessica","family":"Rosati","sequence":"additional","affiliation":[{"name":"Mendel Laboratory, IRCCS Casa Sollievo della Sofferenza  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4871-9519","authenticated-orcid":false,"given":"Marcella","family":"Zollino","sequence":"additional","affiliation":[{"name":"Dipartimento Universitario Scienze della Vita e Sanit\u00e0 Pubblica, Sezione di Medicina Genomica Universit\u00e0 Cattolica Sacro Cuore  Rome Italy"},{"name":"Genetica Medica, Fondazione Policlinico Universitario A. 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