{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,25]],"date-time":"2026-04-25T14:43:53Z","timestamp":1777128233734,"version":"3.51.4"},"reference-count":13,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2025,10,9]],"date-time":"2025-10-09T00:00:00Z","timestamp":1759968000000},"content-version":"vor","delay-in-days":8,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100012226","name":"Fundamental Research Funds for the Central Universities","doi-asserted-by":"publisher","award":["HUST: 2019JYCXJJ035"],"award-info":[{"award-number":["HUST: 2019JYCXJJ035"]}],"id":[{"id":"10.13039\/501100012226","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81000079"],"award-info":[{"award-number":["81000079"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81170165"],"award-info":[{"award-number":["81170165"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81870959"],"award-info":[{"award-number":["81870959"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100012166","name":"National Key Research and Development Program of China","doi-asserted-by":"publisher","award":["2023YFC2706302"],"award-info":[{"award-number":["2023YFC2706302"]}],"id":[{"id":"10.13039\/501100012166","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Nephrology"],"published-print":{"date-parts":[[2025,10]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Bartter syndrome type II is an autosomal recessive salt\u2010losing tubulopathy caused by variants in the\n                    <jats:italic>KCNJ1<\/jats:italic>\n                    gene, with a typical clinical phenotype of hypokalemia. In this study, we identified a 3\u2010year\u2010old child exhibiting hypokalemia and lower limb weakness. Genetic analysis identified a novel compound heterozygous mutation in the\n                    <jats:italic>KCNJ1<\/jats:italic>\n                    gene (c.640A&gt;G, p.Thr214Ala; c.1017C&gt;A, p.Cys339Ter) in the patient, whereas each of the unaffected parents carried only one of these heterozygous mutations. Structural analysis indicated that the p.Thr214Ala variant impairs the stability of ROMK protein. Our findings expand the phenotypic and genetic spectrum associated with the\n                    <jats:italic>KCNJ1<\/jats:italic>\n                    gene, which would facilitate genetic counselling and prenatal genetic diagnosis.\n                  <\/jats:p>","DOI":"10.1111\/nep.70136","type":"journal-article","created":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T06:40:02Z","timestamp":1760078402000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Novel Compound Heterozygous Mutation in the\n                    <scp>\n                      <i>KCNJ1<\/i>\n                    <\/scp>\n                    Gene Causes Bartter Syndrome"],"prefix":"10.1111","volume":"30","author":[{"given":"Linglu","family":"Xiao","sequence":"first","affiliation":[{"name":"Key Laboratory of Molecular Biophysics of the Ministry of Education College of Life Science and Technology and Center for Human Genome Research, Huazhong University of Science and Technology  Wuhan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yanqin","family":"Ying","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology  Wuhan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Weimin","family":"Jia","sequence":"additional","affiliation":[{"name":"Key Laboratory of Molecular Biophysics of the Ministry of Education College of Life Science and Technology and Center for Human Genome Research, Huazhong University of Science and Technology  Wuhan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guihua","family":"Wang","sequence":"additional","affiliation":[{"name":"Key Laboratory of Molecular Biophysics of the Ministry of Education College of Life Science and Technology and Center for Human Genome Research, Huazhong University of Science and Technology  Wuhan 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China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0103-2341","authenticated-orcid":false,"given":"Xianqin","family":"Zhang","sequence":"additional","affiliation":[{"name":"Key Laboratory of Molecular Biophysics of the Ministry of Education College of Life Science and Technology and Center for Human Genome Research, Huazhong University of Science and Technology  Wuhan 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