{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,14]],"date-time":"2026-08-14T00:00:50Z","timestamp":1786665650060,"version":"build-2736575974"},"reference-count":46,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2018,8,9]],"date-time":"2018-08-09T00:00:00Z","timestamp":1533772800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100004156","name":"Mahidol University","doi-asserted-by":"publisher","award":["R015810004"],"award-info":[{"award-number":["R015810004"]}],"id":[{"id":"10.13039\/501100004156","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004192","name":"National Science and Technology Development Agency","doi-asserted-by":"publisher","award":["P\u201013\u201000700"],"award-info":[{"award-number":["P\u201013\u201000700"]}],"id":[{"id":"10.13039\/501100004192","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004396","name":"Thailand Research Fund","doi-asserted-by":"publisher","award":["IRG5980006"],"award-info":[{"award-number":["IRG5980006"]}],"id":[{"id":"10.13039\/501100004396","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2018,11]]},"abstract":"<jats:p>Hereditary distal renal tubular acidosis (dRTA) is a rare genetic disease that is caused by mutations in <jats:italic>SLC4A1<\/jats:italic>, <jats:italic>ATP6V1B1<\/jats:italic>, or <jats:italic>ATP6V0A4<\/jats:italic>. However, there are many families with hereditary dRTA in whom the disease\u2010causing genes are unknown. Accordingly, we performed whole exome sequencing and genetic studies of the members of a family with autosomal recessive dRTA of an unknown genetic etiology. Here, we report compound heterozygous pathogenic variations in <jats:italic>tryptophan\u2010aspartate repeat domain 72<\/jats:italic> (<jats:italic>WDR72<\/jats:italic>) (c.1777A&gt;G [p.R593G] and c.2522T&gt;A [p.L841Q]) in three affected siblings of a family with dRTA. Both variants segregated with dRTA in the family and were not observed in normal control subjects. Homologous modeling and <jats:italic>in silico<\/jats:italic> mutagenesis indicated that R593G and L841Q alter the H\u2010bond formations in the nearby residues, affecting the WDR72 protein structure. All these evidences indicate that the identified <jats:italic>WDR72<\/jats:italic> variations were probably to have caused hereditary dRTA in the reported family. In addition, homozygous nonsense mutation (c.2686C&gt;T [p.R896X]) was identified in another family, strongly supporting the causal role of <jats:italic>WDR72<\/jats:italic> in dRTA. Based on our literature review, <jats:italic>WDR72<\/jats:italic> mutations associated with dRTA have not been previously described. This is the first identification of pathogenic variations in <jats:italic>WDR72<\/jats:italic> as a cause of hereditary dRTA.<\/jats:p>","DOI":"10.1111\/cge.13418","type":"journal-article","created":{"date-parts":[[2018,7,20]],"date-time":"2018-07-20T09:28:21Z","timestamp":1532078901000},"page":"409-418","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":77,"title":["Distal renal tubular acidosis caused by <i>tryptophan\u2010aspartate repeat domain 72<\/i> (<i>WDR72<\/i>) mutations"],"prefix":"10.1111","volume":"94","author":[{"given":"N.","family":"Rungroj","sequence":"first","affiliation":[{"name":"Division of Molecular Medicine, Department of Research and Development, Faculty of Medicine Siriraj Hospital Mahidol University  Bangkok Thailand"},{"name":"Division of Molecular Genetics, Department of Research and Development, Faculty of Medicine Siriraj Hospital Mahidol University  Bangkok 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