{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,6,5]],"date-time":"2024-06-05T22:40:01Z","timestamp":1717627201370},"reference-count":16,"publisher":"Cambridge University Press (CUP)","issue":"12","license":[{"start":{"date-parts":[[2014,12,15]],"date-time":"2014-12-15T00:00:00Z","timestamp":1418601600000},"content-version":"unspecified","delay-in-days":14,"URL":"https:\/\/www.cambridge.org\/core\/terms"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J. Laryngol. Otol."],"published-print":{"date-parts":[[2014,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec id=\"S0022215114002540_sec1\"><jats:title>Background:<\/jats:title><jats:p>Hearing defects are the most common sensory disorders, affecting 1 out of every 500 newborns.<jats:italic>ATP6V1B<\/jats:italic>mutations are associated with early sensorineural hearing loss, whereas<jats:italic>ATP6V0A4<\/jats:italic>mutations are classically associated with either late-onset sensorineural hearing loss or normal hearing.<jats:italic>ATP6V1B1<\/jats:italic>and<jats:italic>ATP6V0A4<\/jats:italic>genetic mutations cause recessive forms of distal renal tubular acidosis.<\/jats:p><\/jats:sec><jats:sec id=\"S0022215114002540_sec2\"><jats:title>Method:<\/jats:title><jats:p>Ten unrelated deaf Iranian families with distal renal tubular acidosis were referred to the Genetics Research Centre, University of Social Welfare and Rehabilitation Sciences, Tehran. All exons of the<jats:italic>ATP6V1B1<\/jats:italic>and<jats:italic>ATP6V0A4<\/jats:italic>genes were sequenced in affected family members.<\/jats:p><\/jats:sec><jats:sec id=\"S0022215114002540_sec3\"><jats:title>Results:<\/jats:title><jats:p>We identified a previously reported<jats:italic>ATP6V1B1<\/jats:italic>frameshift mutation (P385fsX441) in two families and a nucleotide substitution in exon 10 (P346R) in three families. In addition, one patient was homozygous for a novel nucleotide substitution in exon 3.<\/jats:p><\/jats:sec><jats:sec id=\"S0022215114002540_sec4\"><jats:title>Conclusion:<\/jats:title><jats:p><jats:italic>ATP6V1B1<\/jats:italic>genetic mutations were detected in more than half of the families studied. Mutations in this gene therefore seem to be the most common causative factors in hearing loss associated with distal renal tubular acidosis in these families.<\/jats:p><\/jats:sec>","DOI":"10.1017\/s0022215114002540","type":"journal-article","created":{"date-parts":[[2014,12,15]],"date-time":"2014-12-15T16:17:27Z","timestamp":1418660247000},"page":"1056-1059","source":"Crossref","is-referenced-by-count":3,"title":["Investigation of<i>ATP6V1B1<\/i>and<i>ATP6V0A4<\/i>genes causing hereditary hearing loss associated with distal renal tubular acidosis in Iranian families"],"prefix":"10.1017","volume":"128","author":[{"given":"F","family":"Zeinali","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Mohseni","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Fadaee","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Z","family":"Fattahi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H","family":"Najmabadi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H","family":"Otukesh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K","family":"Kahrizi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"56","published-online":{"date-parts":[[2014,12,15]]},"reference":[{"key":"S0022215114002540_ref9","doi-asserted-by":"publisher","DOI":"10.1038\/5022"},{"key":"S0022215114002540_ref7","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(01)06186-4"},{"key":"S0022215114002540_ref11","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1038\/79208","article-title":"Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing","volume":"26","author":"Smith","year":"2000","journal-title":"Nat Genet"},{"key":"S0022215114002540_ref1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mrrev.2008.08.002"},{"key":"S0022215114002540_ref8","doi-asserted-by":"publisher","DOI":"10.1152\/ajpcell.00024.2007"},{"key":"S0022215114002540_ref2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35572"},{"key":"S0022215114002540_ref10","doi-asserted-by":"publisher","DOI":"10.1086\/302679"},{"key":"S0022215114002540_ref6","doi-asserted-by":"publisher","DOI":"10.1097\/01.ASN.0000023430.92674.E5"},{"key":"S0022215114002540_ref4","doi-asserted-by":"publisher","DOI":"10.1016\/S1808-8694(15)31313-6"},{"key":"S0022215114002540_ref5","doi-asserted-by":"publisher","DOI":"10.1080\/03014460310001652211"},{"key":"S0022215114002540_ref13","doi-asserted-by":"publisher","DOI":"10.1097\/01.ASN.0000023433.08833.88"},{"key":"S0022215114002540_ref12","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2004110935"},{"key":"S0022215114002540_ref14","doi-asserted-by":"publisher","DOI":"10.2147\/IMCRJ.S13667"},{"key":"S0022215114002540_ref15","first-page":"605053","article-title":"Endolymphatic sac enlargement in a girl with a novel mutation for distal renal tubular acidosis and severe deafness","volume":"2012","author":"Nikki","year":"2012","journal-title":"Case Rep Pediatr"},{"key":"S0022215114002540_ref16","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.2.115"},{"key":"S0022215114002540_ref3","doi-asserted-by":"crossref","first-page":"502","DOI":"10.1093\/oso\/9780195138498.001.0001","volume-title":"Hereditary Hearing Loss and its Syndromes","author":"Toriello","year":"2004"}],"container-title":["The Journal of Laryngology &amp; Otology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cambridge.org\/core\/services\/aop-cambridge-core\/content\/view\/S0022215114002540","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,6,5]],"date-time":"2024-06-05T22:02:33Z","timestamp":1717624953000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cambridge.org\/core\/product\/identifier\/S0022215114002540\/type\/journal_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,12]]},"references-count":16,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2014,12]]}},"alternative-id":["S0022215114002540"],"URL":"https:\/\/doi.org\/10.1017\/s0022215114002540","relation":{},"ISSN":["0022-2151","1748-5460"],"issn-type":[{"value":"0022-2151","type":"print"},{"value":"1748-5460","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,12]]}}}