{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,27]],"date-time":"2026-10-27T19:49:25Z","timestamp":1793130565636,"version":"4.5.0"},"reference-count":24,"publisher":"BMJ","issue":"11","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[2002,11]]},"abstract":"<jats:p>\n                    Autosomal recessive distal renal tubular acidosis (rdRTA) is characterised by severe hyperchloraemic metabolic acidosis in childhood, hypokalaemia, decreased urinary calcium solubility, and impaired bone physiology and growth. Two types of rdRTA have been differentiated by the presence or absence of sensorineural hearing loss, but appear otherwise clinically similar. Recently, we identified mutations in genes encoding two different subunits of the renal \u03b1-intercalated cell\u2019s apical H\n                    <jats:sup>+<\/jats:sup>\n                    -ATPase that cause rdRTA. Defects in the B1 subunit gene\n                    <jats:italic>ATP6V1B1<\/jats:italic>\n                    , and the a4 subunit gene\n                    <jats:italic>ATP6V0A4<\/jats:italic>\n                    , cause rdRTA with deafness and with preserved hearing, respectively.\n                  <\/jats:p>\n                  <jats:p>\n                    We have investigated 26 new rdRTA kindreds, of which 23 are consanguineous. Linkage analysis of seven novel SNPs and five polymorphic markers in, and tightly linked to,\n                    <jats:italic>ATP6V1B1<\/jats:italic>\n                    and\n                    <jats:italic>ATP6V0A4<\/jats:italic>\n                    suggested that four families do not link to either locus, providing strong evidence for additional genetic heterogeneity.\n                  <\/jats:p>\n                  <jats:p>\n                    In\n                    <jats:italic>ATP6V1B1<\/jats:italic>\n                    , one novel and five previously reported mutations were found in 10 kindreds. In 12\n                    <jats:italic>ATP6V0A4<\/jats:italic>\n                    kindreds, seven of 10 mutations were novel\n                    <jats:italic>.<\/jats:italic>\n                    A further nine novel\n                    <jats:italic>ATP6V0A4<\/jats:italic>\n                    mutations were found in \u201csporadic\u201d cases.\n                  <\/jats:p>\n                  <jats:p>\n                    The previously reported association between\n                    <jats:italic>ATP6V1B1<\/jats:italic>\n                    defects and severe hearing loss in childhood was maintained. However, several patients with\n                    <jats:italic>ATP6V0A4<\/jats:italic>\n                    mutations have developed hearing loss, usually in young adulthood. We show here that\n                    <jats:italic>ATP6V0A4<\/jats:italic>\n                    is expressed within the human inner ear. These findings provide further evidence for genetic heterogeneity in rdRTA, extend the spectrum of disease causing mutations in\n                    <jats:italic>ATP6V1B1<\/jats:italic>\n                    and\n                    <jats:italic>ATP6V0A4<\/jats:italic>\n                    , and show\n                    <jats:italic>ATP6V0A4<\/jats:italic>\n                    expression within the cochlea for the first time.\n                  <\/jats:p>","DOI":"10.1136\/jmg.39.11.796","type":"journal-article","created":{"date-parts":[[2002,11,1]],"date-time":"2002-11-01T16:04:21Z","timestamp":1036166661000},"page":"796-803","source":"Crossref","is-referenced-by-count":259,"title":["Novel\n                    <i>ATP6V1B1<\/i>\n                    and\n                    <i>ATP6V0A4<\/i>\n                    mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss"],"prefix":"10.1136","volume":"39","author":[{"given":"E 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