{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T06:11:44Z","timestamp":1790835104126,"version":"4.1.0"},"reference-count":42,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"6","funder":[{"name":"University Research Priority Program (UFSP) ITINERARE"},{"name":"National Centre of Competence in Research"},{"name":"European Reference Network for Rare Kidney Diseases"},{"DOI":"10.13039\/501100001711","name":"Schweizerischer Nationalfonds zur F\u00f6rderung der Wissenschaftlichen Forschung","doi-asserted-by":"publisher","award":["310030_189044"],"award-info":[{"award-number":["310030_189044"]}],"id":[{"id":"10.13039\/501100001711","id-type":"DOI","asserted-by":"publisher"}]},{"name":"UKGM Forschungsfoerderung","award":["21\/2015MR"],"award-info":[{"award-number":["21\/2015MR"]}]},{"DOI":"10.13039\/100000050","name":"National Heart, Lung, and Blood Institute","doi-asserted-by":"publisher","award":["R35 HL135749"],"award-info":[{"award-number":["R35 HL135749"]}],"id":[{"id":"10.13039\/100000050","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["I01 BX004024"],"award-info":[{"award-number":["I01 BX004024"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["387509280 SFB 1350"],"award-info":[{"award-number":["387509280 SFB 1350"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":["JASN"],"published-print":{"date-parts":[[2021,6]]},"abstract":"<jats:sec>\n                    <jats:title>Significance Statement<\/jats:title>\n                    <jats:p>\n                      A novel disease phenotype comprises a tubulopathy with severe hypokalemia, renal salt wasting, disturbed acid-base homeostasis, and sensorineural deafness associated with variants in\n                      <jats:italic toggle=\"yes\">KCNJ16<\/jats:italic>\n                      (K\n                      <jats:sub>ir<\/jats:sub>\n                      5.1). In the kidney, the inwardly rectifying potassium channel subunit KCNJ16 forms functional heteromers with KCNJ10 in the distal nephron and with KCNJ15 in the proximal tubule. Functional studies of mutant KCNJ16 in\n                      <jats:italic toggle=\"yes\">Xenopus<\/jats:italic>\n                      oocytes demonstrate a disturbed function of channel complexes with both KCNJ10 and KCNJ15. Individuals with KCNJ16 variants may present with metabolic acidosis or alkalosis, reflecting a differential effect on proximal tubular bicarbonate reabsorption as well as distal tubular salt and potassium conservation. These findings together establish a multifaceted role of KCNJ16 in tubular transport processes and potassium and pH sensing.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      The transepithelial transport of electrolytes, solutes, and water in the kidney is a well-orchestrated process involving numerous membrane transport systems. Basolateral potassium channels in tubular cells not only mediate potassium recycling for proper Na\n                      <jats:sup>+<\/jats:sup>\n                      ,K\n                      <jats:sup>+<\/jats:sup>\n                      -ATPase function but are also involved in potassium and pH sensing. Genetic defects in\n                      <jats:italic toggle=\"yes\">KCNJ10<\/jats:italic>\n                      cause EAST\/SeSAME syndrome, characterized by renal salt wasting with hypokalemic alkalosis associated with epilepsy, ataxia, and sensorineural deafness.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>A candidate gene approach and whole-exome sequencing determined the underlying genetic defect in eight patients with a novel disease phenotype comprising a hypokalemic tubulopathy with renal salt wasting, disturbed acid-base homeostasis, and sensorineural deafness. Electrophysiologic studies and surface expression experiments investigated the functional consequences of newly identified gene variants.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      We identified mutations in the\n                      <jats:italic toggle=\"yes\">KCNJ16<\/jats:italic>\n                      gene encoding KCNJ16, which along with KCNJ15 and KCNJ10, constitutes the major basolateral potassium channel of the proximal and distal tubules, respectively. Coexpression of mutant KCNJ16 together with KCNJ15 or KCNJ10 in\n                      <jats:italic toggle=\"yes\">Xenopus<\/jats:italic>\n                      oocytes significantly reduced currents.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      Biallelic variants in\n                      <jats:italic toggle=\"yes\">KCNJ16<\/jats:italic>\n                      were identified in patients with a novel disease phenotype comprising a variable proximal and distal tubulopathy associated with deafness. Variants affect the function of heteromeric potassium channels, disturbing proximal tubular bicarbonate handling as well as distal tubular salt reabsorption.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1681\/asn.2020111587","type":"journal-article","created":{"date-parts":[[2021,4,2]],"date-time":"2021-04-02T13:35:13Z","timestamp":1617370513000},"page":"1498-1512","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":70,"title":["Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural Deafness"],"prefix":"10.1681","volume":"32","author":[{"given":"Karl P.","family":"Schlingmann","sequence":"first","affiliation":[{"name":"Department of General Pediatrics, Pediatric Nephrology, University Children\u2019s Hospital, Munster, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aparna","family":"Renigunta","sequence":"additional","affiliation":[{"name":"Department of Pediatric Nephrology, Marburg Kidney Research Center, Philipps University, Marburg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ewout J.","family":"Hoorn","sequence":"additional","affiliation":[{"name":"Division of Nephrology and Transplantation, Department of Internal Medicine, Erasmus Medical Center, Rotterdam, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna-Lena","family":"Forst","sequence":"additional","affiliation":[{"name":"Department of Physiology, Medical Cell Biology, University of Regensburg, Regensburg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vijay","family":"Renigunta","sequence":"additional","affiliation":[{"name":"Department of Neurophysiology, Institute of Physiology and Pathophysiology, Philipps University, Marburg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Velko","family":"Atanasov","sequence":"additional","affiliation":[{"name":"Department of Neuroscience, Physiology and Pharmacology, University College London, London, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sinthura","family":"Mahendran","sequence":"additional","affiliation":[{"name":"Department of Neuroscience, Physiology and Pharmacology, University College London, London, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1231-1562","authenticated-orcid":false,"given":"Tahsin Stefan","family":"Barakat","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3319-5233","authenticated-orcid":false,"given":"Valentine","family":"Gillion","sequence":"additional","affiliation":[{"name":"Division of Nephrology, Saint-Luc Academic Hospital, Universit\u00e9 Catholique Louvain, Brussels, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nathalie","family":"Godefroid","sequence":"additional","affiliation":[{"name":"Division of Pediatric Nephrology, Saint-Luc Academic Hospital, Universit\u00e9 Catholique Louvain, Brussels, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alice S.","family":"Brooks","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dorien","family":"Lugtenberg","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer","family":"Lake","sequence":"additional","affiliation":[{"name":"Department of Physiology, Mechanism of Inherited Kidney Disorders, University of Zurich, Zurich, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huguette","family":"Debaix","sequence":"additional","affiliation":[{"name":"Department of Physiology, Mechanism of Inherited Kidney Disorders, University of Zurich, Zurich, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christoph","family":"Rudin","sequence":"additional","affiliation":[{"name":"Department of Pediatric Nephrology, University Children\u2019s Hospital, Basel, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bertrand","family":"Knebelmann","sequence":"additional","affiliation":[{"name":"Department of Nephrology-Transplantation, Assistance Publique H\u00f4pitaux de Paris, H\u00f4pital Necker, Paris, France"},{"name":"Reference Center for Hereditary Kidney and Childhood Diseases (MAladies Renales Hereditaires de l'Enfant et de l'Adulte), Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephanie","family":"Tellier","sequence":"additional","affiliation":[{"name":"Department of Pediatric Nephrology, and Rheumatology, French Reference Center of Rare Renal Diseases (SORARE), CHU Toulouse, Toulouse, France"},{"name":"Division of Rheumatology, Department of Pediatrics, Centre Hospitalier Universitaire de Toulouse, Toulouse, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caroline","family":"Rousset-Rouvi\u00e8re","sequence":"additional","affiliation":[{"name":"Department of Multidisciplinary Pediatrics, Pediatric Nephrology Unit, La Timone, University Hospital of Marseille, Marseille, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6398-0646","authenticated-orcid":false,"given":"Daan","family":"Viering","sequence":"additional","affiliation":[{"name":"Department of Physiology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2372-8486","authenticated-orcid":false,"given":"Jeroen H. F.","family":"de Baaij","sequence":"additional","affiliation":[{"name":"Department of Physiology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefanie","family":"Weber","sequence":"additional","affiliation":[{"name":"Department of Pediatric Nephrology, Marburg Kidney Research Center, Philipps University, Marburg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3680-5527","authenticated-orcid":false,"given":"Oleg","family":"Palygin","sequence":"additional","affiliation":[{"name":"Department of Physiology, Medical College of Wisconsin, Milwaukee, Wisconsin"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5190-8356","authenticated-orcid":false,"given":"Alexander","family":"Staruschenko","sequence":"additional","affiliation":[{"name":"Department of Physiology, Medical College of Wisconsin, Milwaukee, Wisconsin"},{"name":"Clement J. Zablocki Veterans Affairs Medical Center, Milwaukee, Wisconsin"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0228-8656","authenticated-orcid":false,"given":"Robert","family":"Kleta","sequence":"additional","affiliation":[{"name":"Department of Renal Medicine, University College London, London, United Kingdom"},{"name":"Department of Paediatric Nephrology, Great Ormond Street Hospital for Children National Health Service Foundation Trust, London, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pascal","family":"Houillier","sequence":"additional","affiliation":[{"name":"Reference Center for Hereditary Kidney and Childhood Diseases (MAladies Renales Hereditaires de l'Enfant et de l'Adulte), Paris, France"},{"name":"Department of Physiology, Assistance Publique H\u00f4pitaux de Paris, H\u00f4pital Europ\u00e9en Georges-Pompidou, Paris, France"},{"name":"Department of Renal Physiology, Centre de Recherche des Cordeliers, Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale, Sorbonne Universit\u00e9, Universit\u00e9 de Paris, Centre National de la Recherche Scientifique, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5878-941X","authenticated-orcid":false,"given":"Detlef","family":"Bockenhauer","sequence":"additional","affiliation":[{"name":"Department of Renal Medicine, University College London, London, United Kingdom"},{"name":"Department of Paediatric Nephrology, Great Ormond Street Hospital for Children National Health Service Foundation Trust, London, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3744-4767","authenticated-orcid":false,"given":"Olivier","family":"Devuyst","sequence":"additional","affiliation":[{"name":"Division of Nephrology, Saint-Luc Academic Hospital, Universit\u00e9 Catholique Louvain, Brussels, Belgium"},{"name":"Department of Physiology, Mechanism of Inherited Kidney Disorders, University of Zurich, Zurich, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4169-0680","authenticated-orcid":false,"given":"Rosa","family":"Vargas-Poussou","sequence":"additional","affiliation":[{"name":"Reference Center for Hereditary Kidney and Childhood Diseases (MAladies Renales Hereditaires de l'Enfant et de l'Adulte), Paris, France"},{"name":"Department of Renal Physiology, Centre de Recherche des Cordeliers, Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale, Sorbonne Universit\u00e9, Universit\u00e9 de Paris, Centre National de la Recherche Scientifique, Paris, France"},{"name":"Department of Genetics, Assistance Publique H\u00f4pitaux de Paris, H\u00f4pital Europ\u00e9en Georges-Pompidou, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6084-0659","authenticated-orcid":false,"given":"Richard","family":"Warth","sequence":"additional","affiliation":[{"name":"Department of Physiology, Medical Cell Biology, University of Regensburg, Regensburg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anselm A.","family":"Zdebik","sequence":"additional","affiliation":[{"name":"Department of Neuroscience, Physiology and Pharmacology, University College London, London, United Kingdom"},{"name":"Department of Renal Medicine, University College London, London, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin","family":"Konrad","sequence":"additional","affiliation":[{"name":"Department of General Pediatrics, Pediatric Nephrology, University Children\u2019s Hospital, Munster, 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