{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,27]],"date-time":"2026-06-27T23:39:57Z","timestamp":1782603597027,"version":"3.54.5"},"reference-count":32,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2019,2,19]],"date-time":"2019-02-19T00:00:00Z","timestamp":1550534400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2019,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Congenital nephrogenic diabetes insipidus (NDI) is a rare condition characterized by severe polyuria, due to the inability of the kidneys to concentrate urine in response to arginine vasopressin (AVP). In the majority of the cases, the disease shows an X\u2010linked inherited pattern, although an autosomal recessive inheritance was also observed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We report a patient with a severe NDI diagnosed during the neonatal period. Because the patient was female without a family history of congenital NDI, her disease was thought to exhibit an autosomal recessive form.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A full mutation analysis of AVP receptor 2 (<jats:italic>AVPR2; <\/jats:italic>MIM#300538) gene showed no mutations. However, direct Sanger sequencing of the aquaporin 2 (<jats:italic>AQP2<\/jats:italic>) revealed an apparently homozygous mutation at nucleotide position NM_000486.5:c.374C&gt;T (p.Thr125Met) in exon 2. Further customized multiplex ligation\u2010dependent probe amplification (MLPA), single\u2010nucleotide polymorphism (SNP) array analysis, and long\u2010range polymerase chain reaction (PCR) followed by Sanger sequencing showed a heterozygous exonic deletion comprising exons 2, 3, and partially 4 of <jats:italic>AQP2<\/jats:italic>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This is the first case of a compound heterozygote patient with a missense mutation involving NM_000486.5:exon2:c.374C&gt;T (p.Thr125Met) and a gross deletion of at least exons 2, 3, and partially 4 on the <jats:italic>AQP2<\/jats:italic> to present with a severe NDI phenotype.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.568","type":"journal-article","created":{"date-parts":[[2019,2,20]],"date-time":"2019-02-20T05:10:45Z","timestamp":1550639445000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Severe congenital nephrogenic diabetes insipidus in a compound heterozygote with a new large deletion of the <i>AQP2<\/i> gene. A case report"],"prefix":"10.1002","volume":"7","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9170-8746","authenticated-orcid":false,"given":"Ram\u00f3n","family":"Peces","sequence":"first","affiliation":[{"name":"Nephrology Department, La Paz University Hospital, IdiPAZ Autonomous University Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roc\u00edo","family":"Mena","sequence":"additional","affiliation":[{"name":"La Paz University Hospital Medical and Molecular Genetics Institute (INGEMM), IdiPAZ Madrid Spain"},{"name":"Basic Research Center in the Rare Diseases Network (CIBERER) Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlos","family":"Peces","sequence":"additional","affiliation":[{"name":"Information Technology Area SESCAM Toledo Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fernando","family":"Santos\u2010Simarro","sequence":"additional","affiliation":[{"name":"La Paz University 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