{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,15]],"date-time":"2026-07-15T12:54:59Z","timestamp":1784120099971,"version":"3.55.0"},"reference-count":40,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2024,4,15]],"date-time":"2024-04-15T00:00:00Z","timestamp":1713139200000},"content-version":"vor","delay-in-days":14,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2024,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Introduction<\/jats:title><jats:p>Nephrogenic diabetes insipidus (NDI) is a rare genetic disease that causes water imbalance. The kidneys play a crucial role in regulating body fluids by controlling water balance through urine excretion. This highlights their essential function in managing the body's water levels, but individuals with NDI may have excess urine production (polyuria), that leads to excessive thirst (polydipsia). Untreated affected individuals may exhibit poor feeding and failure to thrive. This disease is caused by mutations in the <jats:italic>AVPR2<\/jats:italic> and the <jats:italic>AQP2<\/jats:italic> genes which have the X\u2010linked and autosomal recessive\/dominant inheritance, respectively. Both of these genes are expressed in the kidney.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Twelve Iranian patients from 10 consanguineous families were studied in this project. DNA was extracted from the whole blood samples of the patients and their parents. All coding exons and exon\u2010intron boundaries of the <jats:italic>AVPR2<\/jats:italic> and <jats:italic>AQP2<\/jats:italic> genes were sequenced in the affected individuals, and the identified variants were investigated in the parents. All variants were analyzed according to the ACMG (American College of Medical Genetics and Genomics) guidelines.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>In this study, 6 different mutations were identified in the patients, including 5 in the AQP2 gene (c.439G&gt;A, c.538G&gt;A, c.140C&gt;T, c.450T&gt;A, and the novel c.668T&gt;C) and 1 in the AVPR2 gene (c.337C&gt;T) in the present study.<\/jats:p><\/jats:sec><jats:sec><jats:title>Discussion<\/jats:title><jats:p>As expected, all the detected mutations in this study were missense. According to the ACMG guideline, the identified mutations were categorized as pathogenic or likely pathogenic. Unlike previous studies which showed more than 90% of mutations were in the <jats:italic>AVPR2<\/jats:italic> gene, and only less than 10% of the mutations were in the <jats:italic>AQP2<\/jats:italic> gene, it was found that more than 90% of our identified mutations located in the <jats:italic>AQP2<\/jats:italic> gene, and only one mutation was observed in the <jats:italic>AVPR2<\/jats:italic> gene, which seems it may be a result of the high rate of consanguineous marriages in the Iranian population. We observed genotype\u2010phenotype correlation in some of our affected individuals, and some of the mutations were observed in unrelated families from same ethnicity which could be suggestive of a founder mutation.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2421","type":"journal-article","created":{"date-parts":[[2024,4,16]],"date-time":"2024-04-16T05:04:00Z","timestamp":1713243840000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Genetic analysis of nephrogenic diabetes insipidus patients: A study on the Iranian population"],"prefix":"10.1002","volume":"12","author":[{"given":"Saeed","family":"Ghasemi","sequence":"first","affiliation":[{"name":"Department of Medical Genetics School of Medicine, Iran University of Medical Sciences (IUMS)  Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9630-3561","authenticated-orcid":false,"given":"Marzieh","family":"Mojbafan","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics School of Medicine, Iran University of Medical Sciences (IUMS)  Tehran Iran"},{"name":"Department of Medical Genetics Ali\u2010Asghar Children's Hospital  Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saeed","family":"Talebi","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics School of Medicine, Iran University of Medical Sciences (IUMS)  Tehran Iran"},{"name":"Department of Medical Genetics Ali\u2010Asghar Children's Hospital  Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nakysa","family":"Hooman","sequence":"additional","affiliation":[{"name":"Department of Pediatric Nephrology Ali\u2010Asghar Children's Hospital  Tehran Iran"},{"name":"Clinical Research Development Center Iran University of Medical Sciences  Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rozita","family":"Hoseini","sequence":"additional","affiliation":[{"name":"Department of Pediatric Nephrology Ali\u2010Asghar Children's Hospital  Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,4,15]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/0471142905.hg0720s76"},{"key":"e_1_2_12_3_1","unstructured":"Bateman M. &Pilkington L.(2011).Confronting microfinance: undermining sustainable development."},{"issue":"2","key":"e_1_2_12_4_1","first-page":"278","article-title":"Nature and recurrence of AVPR2 mutations in X\u2010linked nephrogenic diabetes insipidus","volume":"55","author":"Bichet D. 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