{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,4]],"date-time":"2026-08-04T02:40:19Z","timestamp":1785811219305,"version":"3.56.0"},"reference-count":13,"publisher":"BMJ","issue":"9","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2025,8,30]]},"published-print":{"date-parts":[[2025,9]]},"abstract":"<jats:p>Distal renal tubular acidosis (dRTA) is a rare kidney disorder with an incidence of less than 1 in 100\u2009000 people, characterised by metabolic acidosis and hypokalaemia. While mutations in genes such as ATP6V1B1, ATP6V0A4 and SLC4A1 are commonly associated with dRTA, this study reports a rare variant of the <jats:italic>WDR72<\/jats:italic> gene in siblings from the Punjabi population in India. The individuals exhibited amelogenesis imperfecta (AI), hypokalaemic periodic paralysis (HPP) and acidaemia due to impaired ion transport in the distal convoluted tubule. Genetic testing revealed novel variants in the <jats:italic>WDR72<\/jats:italic> gene: c.2934G&gt;A, p.Trp978 and c.781G&gt;A, p.Gly261Arg. Researchers observed a positive therapeutic response following potassium supplementation. This study highlights a rare <jats:italic>WDR72<\/jats:italic> variant associated with AI, dRTA and HPP, and explores the potential underlying molecular mechanisms.<\/jats:p>","DOI":"10.1136\/bcr-2025-265122","type":"journal-article","created":{"date-parts":[[2025,9,15]],"date-time":"2025-09-15T04:45:25Z","timestamp":1757911525000},"page":"e265122","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":2,"title":["Clinical and molecular mechanistic insights into the WDR72 mutation"],"prefix":"10.1136","volume":"18","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1202-4811","authenticated-orcid":false,"given":"Aakash","family":"Gupta","sequence":"first","affiliation":[{"name":"Dentistry, All India Institute of Medical Sciences - Bathinda, Bathinda, Punjab, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ajay","family":"Elangovan","sequence":"additional","affiliation":[{"name":"Central University of Punjab, Bathinda, Punjab, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ramandeep","family":"Singh","sequence":"additional","affiliation":[{"name":"Radiodiagnsosis, All India Institute of Medical Sciences - Bathinda, Bathinda, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0002-4949-9706","authenticated-orcid":false,"given":"Arvinder","family":"Wander","sequence":"additional","affiliation":[{"name":"Pediatrics, All India Institute of Medical Sciences - Bathinda, Bathinda, Punjab, India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2025,9,14]]},"reference":[{"key":"2025091421451588000_18.9.e265122.1","doi-asserted-by":"crossref","first-page":"981","DOI":"10.1093\/ndt\/gfy409","article-title":"Treatment and long-term outcome in primary distal renal tubular acidosis","volume":"34","author":"Lopez-Garcia","year":"2019","journal-title":"Nephrol Dial Transplant"},{"key":"2025091421451588000_18.9.e265122.2","doi-asserted-by":"publisher","DOI":"10.1097\/01.ASN.0000023433.08833.88"},{"key":"2025091421451588000_18.9.e265122.3","doi-asserted-by":"crossref","first-page":"117","DOI":"10.4103\/ipcares.ipcares_86_23","article-title":"Genotype\u2013Phenotype Characteristics of Children with Distal Renal Tubular Acidosis Caused by WDR72 Mutations","volume":"3","author":"Todkar","year":"2023","journal-title":"Indian Pediatrics Case Reports"},{"key":"2025091421451588000_18.9.e265122.4","doi-asserted-by":"publisher","DOI":"10.1152\/physrev.00045.2003"},{"key":"2025091421451588000_18.9.e265122.5","doi-asserted-by":"publisher","DOI":"10.1093\/ndt\/gfs442"},{"key":"2025091421451588000_18.9.e265122.6","doi-asserted-by":"publisher","DOI":"10.1016\/j.kint.2016.12.017"},{"key":"2025091421451588000_18.9.e265122.7","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13418"},{"key":"2025091421451588000_18.9.e265122.8","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.09.014"},{"key":"2025091421451588000_18.9.e265122.9","doi-asserted-by":"publisher","DOI":"10.1097\/01.ASN.0000023430.92674.E5"},{"key":"2025091421451588000_18.9.e265122.10","doi-asserted-by":"crossref","DOI":"10.1038\/srep14827","article-title":"Mapping the H(+) (V)-ATPase interactome: identification of proteins involved in trafficking, folding, assembly and phosphorylation","volume":"5","author":"Merkulova","year":"2015","journal-title":"Sci Rep"},{"key":"2025091421451588000_18.9.e265122.11","doi-asserted-by":"crossref","first-page":"302","DOI":"10.1002\/mgg3.143","article-title":"Critical roles for WDR 72 in calcium transport and matrix protein removal during enamel maturation","volume":"3","author":"Wang","year":"2015","journal-title":"Molec Gen &Amp; Gen Med"},{"key":"2025091421451588000_18.9.e265122.12","doi-asserted-by":"crossref","first-page":"407","DOI":"10.1007\/s00467-024-06478-3","article-title":"Clinical characteristics and genetic profile of children with WDR72-associated distal renal tubular acidosis: a nationwide experience","volume":"40","author":"Deepthi","year":"2025","journal-title":"Pediatr Nephrol"},{"key":"2025091421451588000_18.9.e265122.13","doi-asserted-by":"crossref","first-page":"117","DOI":"10.4103\/ipcares.ipcares_86_23","article-title":"Genotype\u2013Phenotype Characteristics of Children with Distal Renal Tubular Acidosis Caused by WDR72 Mutations: A Systematic Review of Case Reports","volume":"3","author":"Khandelwal","year":"2023","journal-title":"Indian Pediatrics Case Reports"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2025-265122","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,15]],"date-time":"2025-09-15T04:45:26Z","timestamp":1757911526000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2025-265122"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,9]]},"references-count":13,"journal-issue":{"issue":"9","published-online":{"date-parts":[[2025,9,14]]},"published-print":{"date-parts":[[2025,9]]}},"alternative-id":["10.1136\/bcr-2025-265122"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2025-265122","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,9]]}}}