{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,10]],"date-time":"2026-09-10T03:18:06Z","timestamp":1789010286752,"version":"build-2803163510"},"reference-count":0,"publisher":"Oxford University Press (OUP)","issue":"3","content-domain":{"domain":["eje.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2019,9]]},"abstract":"<jats:sec>\n<jats:title>Background<\/jats:title>\n<jats:p>Autosomal dominant neurohypophyseal diabetes insipidus (adNDI) is caused by arginine vasopressin (AVP) deficiency resulting from mutations in the<jats:italic> AVP-NPII<\/jats:italic> gene encoding the AVP preprohormone.<\/jats:p>\n<\/jats:sec>\n<jats:sec>\n<jats:title>Aim<\/jats:title>\n<jats:p>To describe the clinical and molecular features of Italian unrelated families with central diabetes insipidus.<\/jats:p>\n<\/jats:sec>\n<jats:sec>\n<jats:title>Patients and methods<\/jats:title>\n<jats:p>We analyzed <jats:italic>AVP-NPII<\/jats:italic> gene in 13 families in whom diabetes insipidus appeared to be segregating.<\/jats:p>\n<\/jats:sec>\n<jats:sec>\n<jats:title>Results<\/jats:title>\n<jats:p>Twenty-two patients were found to carry a pathogenic <jats:italic>AVP-NPII<\/jats:italic> gene mutation. Two novel c.173 G&gt;C (p.Cys58Ser) and c.215 C&gt;A (p.Ala72Glu) missense mutations and additional eight different mutations previously described were identified; nine were missense and one non-sense mutation. Most mutations (eight out of ten) occurred in the region encoding for the NPII moiety; two mutations were detected in exon 1. No mutations were found in exon 3. Median age of onset was 32.5 months with a variability within the same mutation (3 to 360 months). No clear genotype\u2013phenotype correlation has been observed, except for the c.55 G&gt;A (p.Ala19Thr) mutation, which led to a later onset of disease (median age 120 months). Brain magnetic resonance imaging (MRI) revealed the absence of posterior pituitary hyperintensity in 8 out of 15 subjects, hypointense signal in 4 and normal signal in 2. Follow-up MRI showed the disappearance of the posterior pituitary hyperintensity after 6 years in one case.<\/jats:p>\n<\/jats:sec>\n<jats:sec>\n<jats:title>Conclusion<\/jats:title>\n<jats:p>adNDI is a progressive disease with a variable age of onset. Molecular diagnosis and counseling should be provided to avoid unnecessary investigations and to ensure an early and adequate treatment.<\/jats:p>\n<\/jats:sec>","DOI":"10.1530\/eje-19-0299","type":"journal-article","created":{"date-parts":[[2019,6,25]],"date-time":"2019-06-25T13:54:04Z","timestamp":1561470844000},"page":"233-244","update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-1","source":"Crossref","is-referenced-by-count":14,"title":["Familial neurohypophyseal diabetes insipidus in 13 kindreds and 2 novel mutations in the vasopressin gene"],"prefix":"10.1093","volume":"181","author":[{"given":"Giuseppa","family":"Patti","sequence":"first","affiliation":[{"name":"1Department of Pediatrics, IRCCS Istituto Giannina Gaslini Institute, University of Genova, Genova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saverio","family":"Scianguetta","sequence":"additional","affiliation":[{"name":"2Department of Women, Child and General and Specialized Surgery, University of Campania \u2018Luigi Vanvitelli\u2019, Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Domenico","family":"Roberti","sequence":"additional","affiliation":[{"name":"2Department of Women, Child and General and Specialized Surgery, University of Campania \u2018Luigi Vanvitelli\u2019, Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alberto","family":"Di Mascio","sequence":"additional","affiliation":[{"name":"3University of Trieste, Trieste, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio","family":"Balsamo","sequence":"additional","affiliation":[{"name":"4Pediatrics Unit, Policlinico S. Orsola-Malpighi, Bologna, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Milena","family":"Brugnara","sequence":"additional","affiliation":[{"name":"5Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics, University of Verona, Verona, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marco","family":"Cappa","sequence":"additional","affiliation":[{"name":"6Unit of Endocrinology, Bambino Ges\u00f9 Children\u2019s Hospital, IRCCS, Roma, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maddalena","family":"Casale","sequence":"additional","affiliation":[{"name":"2Department of Women, Child and General and Specialized Surgery, University of Campania \u2018Luigi Vanvitelli\u2019, Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paolo","family":"Cavarzere","sequence":"additional","affiliation":[{"name":"5Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics, University of Verona, Verona, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"Cipriani","sequence":"additional","affiliation":[{"name":"7Endocrine Unit, Department of Experimental and Clinical Biomedical Sciences \u2018Mario Serio\u2019, University of Firenze, Ospedale Careggi Firenze, Firenze, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sabrina","family":"Corbetta","sequence":"additional","affiliation":[{"name":"8Endocrinology and Diabetology Service, IRCCS Istituto Ortopedico Galeazzi, University of Milan, Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rossella","family":"Gaudino","sequence":"additional","affiliation":[{"name":"5Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics, University of Verona, Verona, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lorenzo","family":"Iughetti","sequence":"additional","affiliation":[{"name":"9Policlinico Universitario Modena, Modena, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucia","family":"Martini","sequence":"additional","affiliation":[{"name":"5Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics, University of Verona, Verona, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Flavia","family":"Napoli","sequence":"additional","affiliation":[{"name":"1Department of Pediatrics, IRCCS Istituto Giannina Gaslini Institute, University of Genova, Genova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandro","family":"Peri","sequence":"additional","affiliation":[{"name":"7Endocrine Unit, Department of Experimental and Clinical Biomedical Sciences \u2018Mario Serio\u2019, University of Firenze, Ospedale Careggi Firenze, Firenze, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Carolina","family":"Salerno","sequence":"additional","affiliation":[{"name":"10Department of Translational Medical Sciences-Pediatric Section, University of Naples Federico II, Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberto","family":"Salerno","sequence":"additional","affiliation":[{"name":"11SOD Endocrinologia, DAI Medico-Geriatrico, AOU Careggi Florence, Florence, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Passeri","sequence":"additional","affiliation":[{"name":"8Endocrinology and Diabetology Service, IRCCS Istituto Ortopedico Galeazzi, University of Milan, Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohamad","family":"Maghnie","sequence":"additional","affiliation":[{"name":"1Department of Pediatrics, IRCCS Istituto Giannina Gaslini Institute, University of Genova, Genova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silverio","family":"Perrotta","sequence":"additional","affiliation":[{"name":"2Department of Women, Child and General and Specialized Surgery, University of Campania \u2018Luigi Vanvitelli\u2019, Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natascia","family":"Di Iorgi","sequence":"additional","affiliation":[{"name":"1Department of Pediatrics, IRCCS Istituto Giannina Gaslini Institute, University of Genova, Genova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","container-title":["European Journal of 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