{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,2]],"date-time":"2026-01-02T17:31:47Z","timestamp":1767375107917,"version":"3.40.5"},"reference-count":22,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2021,1,14]],"date-time":"2021-01-14T00:00:00Z","timestamp":1610582400000},"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":[[2021,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Feingold Syndrome type 1 (FS1) is an autosomal dominant disorder due to a loss of function mutations in the <jats:italic>MYCN<\/jats:italic> gene. FS1 is generally clinically characterized by mild learning disability, microcephaly, short palpebral fissures, short stature, brachymesophalangy, hypoplastic thumbs, as well as syndactyly of toes, variably associated with organ abnormalities, the most common being gastrointestinal atresia. In current literature, more than 120 FS1 patients have been described, but diagnostic criteria are not well agreed upon, likewise the genotype\u2013phenotype correlations are not well understood. Here, we describe 11 FS1 patients, belonging to six distinct families, where we have identified three novel <jats:italic>MYCN<\/jats:italic> mutations along with three pathogenetic variants, the latter which have already been reported. Several patients presented a mild phenotype of the condition and they have been diagnosed as being affected only after segregation analyses of the <jats:italic>MYCN<\/jats:italic> mutation identified in the propositus. We also describe here the first ever FS1 patient with severe intellectual disability having a maternally inherited <jats:italic>MYCN<\/jats:italic> variant together with an additional <jats:italic>GNAO1<\/jats:italic> mutation inherited paternally. Mutations in the <jats:italic>GNAO1<\/jats:italic> gene are associated with a specific form of intellectual disability and epilepsy, thus the finding of two different rare diseases in the same patient could explain his severe phenotype. Therein, a thorough investigation is merited into the possibility that additional variants in patients with a <jats:italic>MYCN<\/jats:italic> mutation and severe phenotype do exist. Finally, in order to guarantee a more reliable diagnosis of FS1, we suggest using both major and minor clinical\u2010molecular diagnostic criteria.<\/jats:p>","DOI":"10.1002\/ajmg.a.62068","type":"journal-article","created":{"date-parts":[[2021,1,15]],"date-time":"2021-01-15T18:37:34Z","timestamp":1610735854000},"page":"1204-1210","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Clinical and molecular characterizations of 11 new patients with type 1 Feingold syndrome: Proposal for selecting diagnostic criteria and further genetic testing in patients with severe phenotype"],"prefix":"10.1002","volume":"185","author":[{"given":"Maria Giovanna","family":"Tedesco","sequence":"first","affiliation":[{"name":"Medical Genetics Unit Santa Maria della Misericordia Hospital and University of Perugia  Perugia Italy"},{"name":"Genetics Unit \"Mauro Baschirotto\" Institute for Rare Diseases (B.I.R.D.)  Vicenza Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fortunato","family":"Lonardo","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit \"San Pio\" Hospital  Benevento Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Caterina","family":"Ceccarini","sequence":"additional","affiliation":[{"name":"Cytogenetics Unit Policlinico Riuniti, University Hospitals Foggia  Foggia Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carla","family":"Cesarano","sequence":"additional","affiliation":[{"name":"Cytogenetics Unit Policlinico Riuniti, University Hospitals Foggia  Foggia Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Cristina","family":"Digilio","sequence":"additional","affiliation":[{"name":"Laboratory of Medical Genetics, Medical Genetics Bambino Ges\u00f9 Children's Hospital, IRCCS  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Monia","family":"Magliozzi","sequence":"additional","affiliation":[{"name":"Laboratory of Medical Genetics, Medical Genetics Bambino Ges\u00f9 Children's Hospital, IRCCS  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniela","family":"Rogaia","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit Santa Maria della Misericordia Hospital and University of Perugia  Perugia Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amedea","family":"Mencarelli","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit Santa Maria della Misericordia Hospital and University of Perugia  Perugia 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":"Department of Woman and Child Health and Public Health Center for Rare Diseases and Birth Defects, Fondazione Policlinico Universitario A. Gemelli IRCCS  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carmelo","family":"Piscopo","sequence":"additional","affiliation":[{"name":"U.O.S.C. Medical Genetics, A.O.R.N. \"A. Cardarelli\"  Naples Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3608-6999","authenticated-orcid":false,"given":"Valentina","family":"Imperatore","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit Santa Maria della Misericordia Hospital and University of Perugia  Perugia Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3214-6437","authenticated-orcid":false,"given":"Maria Teresa","family":"Falco","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit \"San Pio\" Hospital  Benevento Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4217-184X","authenticated-orcid":false,"given":"Paolo","family":"Fontana","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit \"San Pio\" Hospital  Benevento Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna Maria","family":"Nardone","sequence":"additional","affiliation":[{"name":"Medical Genetics Laboratory \"Policlinico Tor Vergata\" Hospital  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonio","family":"Novelli","sequence":"additional","affiliation":[{"name":"Laboratory of Medical Genetics, Medical Genetics Bambino Ges\u00f9 Children's Hospital, IRCCS  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stefania","family":"Troiani","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit Santa Maria della Misericordia Hospital and University of Perugia  Perugia Italy"},{"name":"Division of Neonatology and Neonatal Intensive Care Unit Santa Maria della Misericordia Hospital of Perugia  Perugia Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marco","family":"Seri","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit Policlinico S. 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