{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,2]],"date-time":"2026-05-02T13:32:59Z","timestamp":1777728779418,"version":"3.51.4"},"reference-count":20,"publisher":"SAGE Publications","issue":"5","license":[{"start":{"date-parts":[[2016,9,27]],"date-time":"2016-09-27T00:00:00Z","timestamp":1474934400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Int Med Res"],"published-print":{"date-parts":[[2016,10]]},"abstract":"<jats:p>Polyuria and polydipsia are the characteristics of congenital nephrogenic diabetes insipidus (CNDI). Approximately 90% of all patients with CNDI have X-linked hereditary disease, which is due to a mutation of the arginine vasopressin receptor 2 ( AVPR2) gene. This case report describes a 54-year-old male with polyuria and polydipsia and several male members of his pedigree who had the same symptoms. The proband was diagnosed with diabetes insipidus using a water-deprivation and arginine vasopressin stimulation test. Genomic DNA from the patient and his family members was extracted and the AVPR2 gene was sequenced. A novel missense mutation of a cytosine to guanine transition at position 972 (c.972C\u2009&gt;\u2009G) was found, which resulted in the substitution of isoleucine for methionine at amino acid position 324 (p.I324M) in the seventh transmembrane domain of the protein. The proband\u2019s mother and daughter were heterozygous for this mutation. The novel mutation of the AVPR2 gene further broadens the phenotypic spectrum of the AVPR2 gene.<\/jats:p>","DOI":"10.1177\/0300060516655642","type":"journal-article","created":{"date-parts":[[2016,8,26]],"date-time":"2016-08-26T20:07:57Z","timestamp":1472242077000},"page":"1131-1137","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":4,"title":["A novel\n                    <i>AVPR2<\/i>\n                    gene mutation of X-linked congenital nephrogenic diabetes insipidus in an Asian pedigree"],"prefix":"10.1177","volume":"44","author":[{"given":"Wei-Hong","family":"Guo","sequence":"first","affiliation":[{"name":"Department of Endocrinology, Tianjin Medical University General Hospital, Tianjin, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qiang","family":"Li","sequence":"additional","affiliation":[{"name":"Department of General Surgery, Tianjin HaiHe Hospital, Tianjin, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hong-Yan","family":"Wei","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Tianjin Medical University General Hospital, Tianjin, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hong-Yan","family":"Lu","sequence":"additional","affiliation":[{"name":"Department of Neurology, Tianjin Medical University General Hospital, Tianjin, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hui-Qi","family":"Qu","sequence":"additional","affiliation":[{"name":"Division of Epidemiology, Human Genetics and Environmental Sciences, University of Texas School of Public Health, Houston, TX, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mei","family":"Zhu","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Tianjin Medical University General Hospital, Tianjin, China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2016,9,27]]},"reference":[{"key":"bibr1-0300060516655642","doi-asserted-by":"publisher","DOI":"10.1038\/357333a0"},{"key":"bibr2-0300060516655642","doi-asserted-by":"publisher","DOI":"10.1210\/er.2012-1044"},{"key":"bibr3-0300060516655642","doi-asserted-by":"publisher","DOI":"10.1038\/359233a0"},{"key":"bibr4-0300060516655642","doi-asserted-by":"publisher","DOI":"10.1038\/nrneph.2015.89"},{"key":"bibr5-0300060516655642","unstructured":"Online Mendelian Inheritance in Man\u00ae \u2013 An Online Catalog of Human Genes and Genetic Disorders. 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