{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,11,22]],"date-time":"2023-11-22T10:17:09Z","timestamp":1700648229019},"reference-count":27,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2013,4,22]],"date-time":"2013-04-22T00:00:00Z","timestamp":1366588800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Endocrinology"],"published-print":{"date-parts":[[2013,6]]},"abstract":"<jats:title>Summary<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Familial neurohypophyseal diabetes insipidus, an autosomal dominant disorder, is mostly caused by mutations in the genes that encode <jats:styled-content style=\"fixed-case\">AVP<\/jats:styled-content> or its intracellular binding protein, neurophysin\u2010<jats:styled-content style=\"fixed-case\">II<\/jats:styled-content>. The mutations lead to aberrant preprohormone processing and progressive destruction of <jats:styled-content style=\"fixed-case\">AVP<\/jats:styled-content>\u2010secreting cells, which gradually manifests a progressive polyuria and polydipsia during early childhood, and a disorder of water homeostasis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objective<\/jats:title><jats:p>We characterized the clinical and biochemical features, and sequenced the <jats:styled-content style=\"fixed-case\">AVP<\/jats:styled-content> neurophysin\u2010<jats:styled-content style=\"fixed-case\">II<\/jats:styled-content>(<jats:styled-content style=\"fixed-case\">AVP<\/jats:styled-content>\u2010<jats:styled-content style=\"fixed-case\">NPII<\/jats:styled-content>) gene of the affected individuals with autosomal dominant neurohypophyseal diabetes insipidus(<jats:styled-content style=\"fixed-case\">ADNDI<\/jats:styled-content>)to determine whether this disease was genetically determined.<\/jats:p><\/jats:sec><jats:sec><jats:title>Patients and methods<\/jats:title><jats:p>We obtained the histories of eight affected and four unaffected family individuals. The diagnosis of <jats:styled-content style=\"fixed-case\">ADNDI<\/jats:styled-content> was established using a water deprivation test and exogenous <jats:styled-content style=\"fixed-case\">AVP<\/jats:styled-content> administration. For molecular analysis, genomic <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content> was extracted and the <jats:styled-content style=\"fixed-case\">AVP<\/jats:styled-content>\u2010<jats:styled-content style=\"fixed-case\">NPII<\/jats:styled-content> gene was amplified using polymerase chain reaction and sequenced.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The eight affected individuals showed different spectra of age of onsets (7\u201315\u00a0years) and urine volumes (132\u2013253\u00a0ml\/kg\/24\u00a0h). All affected individuals responded to vasopressin administration, with a resolution of symptoms and an increase in urine osmolality by more than 50%. The characteristic hyperintense signal in the posterior pituitary on T1\u2010weighted magnetic resonance imaging was absent in six family members and present in one. Sequencing analysis revealed a missense heterozygous mutation 1516G\u00a0&gt;\u00a0T (Gly17Val) in exon 2 of the <jats:styled-content style=\"fixed-case\">AVP<\/jats:styled-content>\u2010<jats:styled-content style=\"fixed-case\">NPII<\/jats:styled-content> gene among the <jats:styled-content style=\"fixed-case\">ADNDI<\/jats:styled-content> individuals.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>We identified a missense mutation in the <jats:styled-content style=\"fixed-case\">AVP<\/jats:styled-content>\u2010<jats:styled-content style=\"fixed-case\">NPII<\/jats:styled-content> gene and the same mutation showed different spectra of age of onsets and urine volumes in a new Chinese family with <jats:styled-content style=\"fixed-case\">ADNDI<\/jats:styled-content>. The mutation may provide a molecular basis for understanding the characteristics of <jats:styled-content style=\"fixed-case\">NPII<\/jats:styled-content> and add to our knowledge of the pathogenesis of <jats:styled-content style=\"fixed-case\">ADNDI<\/jats:styled-content>, which would allow the presymptomatic diagnosis of asymptomatic subjects.<\/jats:p><\/jats:sec>","DOI":"10.1111\/cen.12129","type":"journal-article","created":{"date-parts":[[2012,12,18]],"date-time":"2012-12-18T21:32:53Z","timestamp":1355866373000},"page":"920-925","source":"Crossref","is-referenced-by-count":3,"title":["A missense mutation in the arginine\u2010vasopressin neurophysin\u2010<scp>II<\/scp> gene causes autosomal dominant neurohypophyseal diabetes insipidus in a Chinese family"],"prefix":"10.1111","volume":"78","author":[{"given":"Dan","family":"Ye","sequence":"first","affiliation":[{"name":"Department of Endocrinology and Metabolism The First Affiliated Hospital of Medical School of Zhejiang University Zhejiang China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"FengQin","family":"Dong","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism The First Affiliated Hospital of Medical School of Zhejiang University Zhejiang China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"WeiQin","family":"Lu","sequence":"additional","affiliation":[{"name":"Department of Vascular Surgery Zhejiang Provincial People's Hospital Hangzhou Zhejiang China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhe","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism The First Affiliated Hospital of Medical School of Zhejiang University Zhejiang China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"XunLiang","family":"Lu","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism The First Affiliated Hospital of Medical School of Zhejiang University Zhejiang China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"ChengJiang","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism The First Affiliated Hospital of Medical School of Zhejiang University Zhejiang China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"YanNing","family":"Liu","sequence":"additional","affiliation":[{"name":"State Key Laboratory for Diagnosis and Treatment of Infectious Diseases The First Affiliated Hospital of Medical School of Zhejiang University Zhejiang 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