{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T02:14:24Z","timestamp":1777601664604,"version":"3.51.4"},"reference-count":10,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2021,6,28]],"date-time":"2021-06-28T00:00:00Z","timestamp":1624838400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81873594"],"award-info":[{"award-number":["81873594"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2021,10]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    The aim of this study was to analyze the genetic variants of 51 Chinese patients with distal renal tubular acidosis (dRTA) and explore the correlation between their genotype and phenotype. Eight variants of\n                    <jats:italic>SLC4A1<\/jats:italic>\n                    , 19 variants of\n                    <jats:italic>ATP6V0A4<\/jats:italic>\n                    , and 16 variants of\n                    <jats:italic>ATP6V1B1<\/jats:italic>\n                    have been identified, and of which 14 were novel ones. Eleven patients with autosomal dominant dRTA, and four patients with autosomal recessive dRTA were caused by genetic defects in\n                    <jats:italic>SLC4A1<\/jats:italic>\n                    ; 18 and nine patients with recessive dRTA were resulted by defects in\n                    <jats:italic>ATP6V0A4<\/jats:italic>\n                    and\n                    <jats:italic>ATP6V1B1<\/jats:italic>\n                    respectively; no causal gene was identified in seven patients. Mutation frequency of\n                    <jats:italic>SLC4A1<\/jats:italic>\n                    in Chinese populations was more common than Europeans. The incidence of deafness in\n                    <jats:italic>ATP6V0A4<\/jats:italic>\n                    and\n                    <jats:italic>ATP6V1B1<\/jats:italic>\n                    groups was 16.7% and 54.5%, respectively. The frequency of CKD in adults, children and infants was 100%, 51%, and 3%, separately. Our study will further expand the mutation spectrum of primary dRTA and provide valuable references to genetic counseling of Chinese populations.\n                  <\/jats:p>","DOI":"10.1111\/cge.14011","type":"journal-article","created":{"date-parts":[[2021,6,23]],"date-time":"2021-06-23T03:07:50Z","timestamp":1624417670000},"page":"440-446","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Genotypic and phenotypic analysis in 51 Chinese patients with primary distal renal tubular acidosis"],"prefix":"10.1111","volume":"100","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5190-9666","authenticated-orcid":false,"given":"Wencong","family":"Guo","sequence":"first","affiliation":[{"name":"Department of Nephrology The Affiliated Qingdao Municipal Hospital of Qingdao University  Qingdao China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qijing","family":"Song","sequence":"additional","affiliation":[{"name":"Department of Emergency Qingdao Jimo People's Hospital  Qingdao China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ruixiao","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Nephrology The Affiliated Qingdao Municipal Hospital of Qingdao University  Qingdao China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qing","family":"Xin","sequence":"additional","affiliation":[{"name":"Department of Nephrology The Affiliated Qingdao Municipal Hospital of Qingdao University  Qingdao China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhiying","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Nephrology The Affiliated Qingdao Municipal Hospital of Qingdao University  Qingdao China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yanhua","family":"Lang","sequence":"additional","affiliation":[{"name":"Department of Nephrology The Affiliated Qingdao Municipal Hospital of Qingdao University  Qingdao China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8064-066X","authenticated-orcid":false,"given":"Xiangzhong","family":"Zhao","sequence":"additional","affiliation":[{"name":"Central Laboratory The Affiliated Hospital of Qingdao University  Qingdao China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3493-2714","authenticated-orcid":false,"given":"Leping","family":"Shao","sequence":"additional","affiliation":[{"name":"Department of Nephrology The Affiliated Qingdao Municipal Hospital of Qingdao University  Qingdao China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,6,28]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1053\/j.ackd.2018.05.003"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/ndt\/gfs442"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.kint.2016.12.017"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.kint.2019.09.026"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12020-010-9340-6"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.3109\/0886022X.2014.930332"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1089\/gtmb.2018.0057"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12882-018-1173-1"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12882-017-0774-4"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/ndt\/gfy409"}],"container-title":["Clinical 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