{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,25]],"date-time":"2026-04-25T14:44:53Z","timestamp":1777128293435,"version":"3.51.4"},"reference-count":33,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2022,8,1]],"date-time":"2022-08-01T00:00:00Z","timestamp":1659312000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100012166","name":"National Key Research and Development Program of China","doi-asserted-by":"publisher","award":["2021YFC1005303"],"award-info":[{"award-number":["2021YFC1005303"]}],"id":[{"id":"10.13039\/501100012166","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2022,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Type III Bartter syndrome (BS), often known as classic Bartter syndrome is caused by variants in <jats:italic>CLCNKB<\/jats:italic> gene, which encoding the basolateral chloride channel protein ClC\u2010Kb, and is characterized by renal salt wasting, hypokalemia, metabolic alkalosis, increased renin, and aldosterone levels.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>A 2\u2010year\u2010old boy presented severe malnutrition, severe metabolic alkalosis and severe hypokalemia and was clinically diagnosed with BS. The trio exome sequencing (ES) was performed to discover the genetic cause of this patient, followed by validation using Sanger sequencing and quantitative polymerase chain reaction subsequently.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The genetic analysis indicated that this patient with a compound heterozygous variants of <jats:italic>CLCNKB<\/jats:italic> gene including a novel nonsense variant c.876\u2009T\u2009&gt;\u2009A and a whole\u2010gene deletion. The two variants were inherited from his parents, respectively. Subsequently, target sequencing of <jats:italic>CLCNKB<\/jats:italic> gene was performed for next pregnancy, and prenatal genetic diagnosis was provided for the family.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>The results of current study identified the compound heterozygous variants in a patient with classic BS. The novel variant expands the spectrum of <jats:italic>CLCNKB<\/jats:italic> variants in BS. Our study also indicates that ES is an alternative tool to simultaneously detect single\u2010nucleotide variants and copy\u2010number variants.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2027","type":"journal-article","created":{"date-parts":[[2022,8,1]],"date-time":"2022-08-01T13:03:19Z","timestamp":1659358999000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["A novel <i>CLCNKB<\/i> variant in a Chinese family with classic Bartter syndrome and prenatal genetic diagnosis"],"prefix":"10.1002","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3026-4827","authenticated-orcid":false,"given":"Qianying","family":"Zhao","sequence":"first","affiliation":[{"name":"Department of Obstetrics &amp; Gynecology West China Second University Hospital, Sichuan University  Chengdu China"},{"name":"Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education Sichuan University  Chengdu China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qinqin","family":"Xiang","sequence":"additional","affiliation":[{"name":"Department of Obstetrics &amp; 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