{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T07:49:26Z","timestamp":1753861766828,"version":"3.41.2"},"reference-count":21,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2023,11,1]],"date-time":"2023-11-01T00:00:00Z","timestamp":1698796800000},"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":[[2024,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Ninety percent of congenital nephrogenic diabetes insipidus (NDI) are X\u2010linked inherited and are caused by mutations in the vasopressin type 2 receptor gene (<jats:italic>AVPR2<\/jats:italic>). Most affected individuals are males. Only sporadic female cases have been reported. Here, we first reported a female monozygotic twin with discordant phenotypes for NDI carrying a missense variant c.845T&gt;C (p.Leu282Pro) in exon 4 of <jats:italic>AVPR2<\/jats:italic>. Intracellular cAMP concentrations in COS7 cells transfected with AVPR2\u2010L282P were significantly decreased by about 60% compared with those in wild\u2010type AVPR2 plasmid transfected cells, suggesting this variation was pathogenic. The X\u2010inactivation pattern was investigated in peripheral leukocytes and urine sediments in both the unaffected and affected pair. Results showed that the affected pair had a skewed X chromosome inactivation (XCI) pattern in urine sediments and a random XCI pattern in leukocytes, while the unaffected pair showed a random XCI pattern both in leukocytes and urine sediments. This was the first report of monozygotic twins who developed different phenotypes of NDI. Our study suggested that the development of NDI symptoms is more closely associated with the XCI pattern in urine sediments compared with the XCI pattern in peripheral leukocytes. Analysis of XCI in peripheral leukocytes may not be enough to explore possible mechanisms.<\/jats:p>","DOI":"10.1002\/ajmg.a.63407","type":"journal-article","created":{"date-parts":[[2023,11,1]],"date-time":"2023-11-01T13:42:02Z","timestamp":1698846122000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["First report on female monozygotic twins discordant for congenital nephrogenic diabetes insipidus"],"prefix":"10.1002","volume":"194","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8089-3667","authenticated-orcid":false,"given":"Xiang","family":"Chen","sequence":"first","affiliation":[{"name":"Department of Endocrinology and Metabolism West China Hospital of Sichuan University  Chengdu Sichuan China"},{"name":"Laboratory of Endocrinology and Metabolism, Department of Endocrinology and Metabolism West China Hospital of Sichuan University  Chengdu Sichuan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Libing","family":"Yun","sequence":"additional","affiliation":[{"name":"Institute of Forensic Medicine, West China School of Basic Science and Forensic Medicine Sichuan University  Chengdu Sichuan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yang","family":"Long","sequence":"additional","affiliation":[{"name":"Experimental Medicine Center The Affiliated Hospital of Southwest Medical University  Luzhou Sichuan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuxia","family":"Sun","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism West China Hospital of Sichuan University  Chengdu Sichuan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tao","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism West China Hospital of Sichuan University  Chengdu Sichuan China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,11]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320520215"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.V1161033"},{"key":"e_1_2_9_4_1","first-page":"1229","article-title":"Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen\u2010receptor gene correlates with X chromosome inactivation","volume":"51","author":"Allen R. 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