{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,6]],"date-time":"2026-01-06T13:37:48Z","timestamp":1767706668671},"reference-count":35,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2015,6,15]],"date-time":"2015-06-15T00:00:00Z","timestamp":1434326400000},"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":["81170794","81370891","30971409"],"award-info":[{"award-number":["81170794","81370891","30971409"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Endocrinology"],"published-print":{"date-parts":[[2015,12]]},"abstract":"<jats:title>Summary<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>Gitelman syndrome (<jats:styled-content style=\"fixed-case\">GS<\/jats:styled-content>) is one of the most common causes of inherited hypokalaemia. As it was caused by mutations in the <jats:italic><jats:styled-content style=\"fixed-case\">SLC<\/jats:styled-content>12A3<\/jats:italic> gene, <jats:styled-content style=\"fixed-case\">GS<\/jats:styled-content> is a highly heterogeneous disease. Here, we aimed to investigate the clinical and genetic characteristics of two Chinese pedigrees and summarize the advance in <jats:styled-content style=\"fixed-case\">GS<\/jats:styled-content> genetics, diagnosis and management.<\/jats:p><\/jats:sec><jats:sec><jats:title>Subjects and methods<\/jats:title><jats:p>Two three\u2010generation families with <jats:styled-content style=\"fixed-case\">GS<\/jats:styled-content> were identified and screened for mutations in the <jats:italic><jats:styled-content style=\"fixed-case\">SLC<\/jats:styled-content>12A3<\/jats:italic> gene. Genotype\u2013phenotype correlations were analysed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The two probands (A and B) were characterized by hypokalaemia, hypomagnesaemia and hypocalciuria without hypertension. Complete <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content> sequencing of the <jats:italic><jats:styled-content style=\"fixed-case\">SLC<\/jats:styled-content>12A3<\/jats:italic> gene revealed two novel compound heterozygous mutations (c.179C&gt;T and c.234delG; c.486\u2010490del<jats:styled-content style=\"fixed-case\">TACGG<\/jats:styled-content>insA and c.1925G&gt;A), which are predicted to drastically affect normal protein structure. The female members of the pedigrees showed mild\u2010to\u2010no phenotype, although they carried the same mutations as the probands. Moreover, proband B presented with more severe symptoms than did proband A, which might be related to a lower serum magnesium level. During the 1\u2010year follow\u2010up, both probands showed satisfactory symptom improvement following the use of potassium and magnesium supplements.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Our findings strongly suggested that the two novel mutations in the <jats:italic><jats:styled-content style=\"fixed-case\">SLC<\/jats:styled-content>12A3<\/jats:italic> gene are the causative agents of <jats:styled-content style=\"fixed-case\">GS<\/jats:styled-content>, which may provide further insights into the function of this gene and help clinicians better understand this disorder.<\/jats:p><\/jats:sec>","DOI":"10.1111\/cen.12820","type":"journal-article","created":{"date-parts":[[2015,5,18]],"date-time":"2015-05-18T12:29:36Z","timestamp":1431952176000},"page":"985-993","source":"Crossref","is-referenced-by-count":17,"title":["Identification of two novel mutations in <i><scp>SLC<\/scp>12A3<\/i> gene in two Chinese pedigrees with Gitelman syndrome and review of literature"],"prefix":"10.1111","volume":"83","author":[{"given":"Congcong","family":"Li","sequence":"first","affiliation":[{"name":"Department of Endocrinology Shandong Provincial Hospital affiliated to Shandong University Jinan Shandong China"},{"name":"Institute of Endocrinology and Metabolism Shandong Academy of Clinical Medicine Jinan Shandong China"},{"name":"Shandong Clinical Medical Center of Endocrinology and Metabolism Jinan Shandong China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xinli","family":"Zhou","sequence":"additional","affiliation":[{"name":"Department of Endocrinology Shandong Provincial Hospital affiliated to Shandong University Jinan Shandong China"},{"name":"Institute of Endocrinology and Metabolism Shandong Academy of Clinical Medicine Jinan Shandong China"},{"name":"Shandong Clinical Medical Center of Endocrinology and Metabolism Jinan Shandong China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wenxia","family":"Han","sequence":"additional","affiliation":[{"name":"Department of Endocrinology Shandong Provincial Hospital affiliated to Shandong University Jinan Shandong China"},{"name":"Institute of Endocrinology and Metabolism Shandong Academy of Clinical Medicine Jinan Shandong China"},{"name":"Shandong Clinical Medical Center of Endocrinology and Metabolism Jinan Shandong China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiuyun","family":"Jiang","sequence":"additional","affiliation":[{"name":"Department of Endocrinology Shandong Provincial Hospital affiliated to Shandong University Jinan Shandong China"},{"name":"Institute of Endocrinology and Metabolism Shandong Academy of Clinical Medicine Jinan Shandong China"},{"name":"Shandong Clinical Medical Center of Endocrinology and Metabolism Jinan Shandong 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