{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,8]],"date-time":"2026-05-08T21:48:47Z","timestamp":1778276927992,"version":"3.51.4"},"reference-count":14,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2016,8,19]],"date-time":"2016-08-19T00:00:00Z","timestamp":1471564800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000265","name":"Medical Research Council","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000265","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100004440","name":"Wellcome Trust","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100004440","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2016,11]]},"abstract":"<jats:sec><jats:label\/><jats:p>The aim of this study was to identify the causative mutation in a family with an unusual presentation of autosomal dominant osteopetrosis (OPT), proximal renal tubular acidosis (RTA), renal stones, epilepsy, and blindness, a combination of features not previously reported. We undertook exome sequencing of one affected and one unaffected family member, followed by targeted analysis of known candidate genes to identify the causative mutation. This identified a missense mutation (c.643G&gt;A; p.Gly215Arg) in the gene encoding the chloride\/proton antiporter 7 (gene <jats:italic>CLCN7<\/jats:italic>, protein CLC\u20107), which was confirmed by amplification refractory mutation system (ARMS)\u2010PCR, and to be present in the three available patients. CLC\u20107 mutations are known to cause autosomal dominant OPT type 2, also called Albers\u2013Schonberg disease, which is characterized by osteosclerosis, predominantly of the spine, pelvis and skull base, resulting in bone fragility and fractures. Albers\u2013Schonberg disease is not reported to be associated with RTA, but autosomal recessive OPT type 3 (OPTB3) with RTA is associated with carbonic anhydrase type 2 (<jats:italic>CA2<\/jats:italic>) mutations. No mutations were detected in <jats:italic>CA2<\/jats:italic> or any other genes known to cause proximal RTA. Neither <jats:italic>CLCN7<\/jats:italic> nor <jats:italic>CA2<\/jats:italic> mutations have previously been reported to be associated with renal stones or epilepsy. Thus, we identified a <jats:italic>CLCN7<\/jats:italic> mutation in a family with autosomal dominant osteopetrosis, RTA, renal stones, epilepsy, and blindness. \u00a9 2016 The Authors. <jats:italic>American Journal of Medical Genetics Part A<\/jats:italic> Published by Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37755","type":"journal-article","created":{"date-parts":[[2016,8,19]],"date-time":"2016-08-19T13:05:55Z","timestamp":1471611955000},"page":"2988-2992","source":"Crossref","is-referenced-by-count":14,"title":["Autosomal dominant osteopetrosis associated with renal tubular acidosis is due to a <i>CLCN7<\/i> mutation"],"prefix":"10.1002","volume":"170","author":[{"given":"Sian E.","family":"Piret","sequence":"first","affiliation":[{"name":"Academic Endocrine Unit  Oxford Centre for Diabetes Endocrinology and Metabolism Churchill Hospital University of Oxford Oxford United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Caroline 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