{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,18]],"date-time":"2026-03-18T19:00:00Z","timestamp":1773860400834,"version":"3.50.1"},"reference-count":57,"publisher":"Spandidos Publications","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Biomed Rep"],"DOI":"10.3892\/br.2026.2122","type":"journal-article","created":{"date-parts":[[2026,2,19]],"date-time":"2026-02-19T08:51:19Z","timestamp":1771491079000},"page":"1-9","source":"Crossref","is-referenced-by-count":0,"title":["Description of the novel variant c.784delG;p. (Ala262Profs*68) at\n                    <i>BSND<\/i>\n                    gene and its association with Bartter Syndrome Type Iva"],"prefix":"10.3892","volume":"24","author":[{"given":"J\u00e9ssica","family":"Bonomo","sequence":"first","affiliation":[{"name":"Laboratory of Biochemistry and Applied Genetics, Department of Genetics and Evolution, Center for Biological and Health Sciences, Federal University of S\u00e3o Carlos, S\u00e3o Carlos, S\u00e3o Paulo 13565\u2011905, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L\u00edvia","family":"De Oliveira","sequence":"additional","affiliation":[{"name":"Unit of Ambulatory Pediatrics, University Hospital of Brasilia, University of Brasilia, Brasilia 70840\u2011901, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Scher","sequence":"additional","affiliation":[{"name":"Medicine course, University Center of Brasilia (UniCEUB), Brasilia 70790\u2011075, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anderson","family":"Da Cunha","sequence":"additional","affiliation":[{"name":"Laboratory of Biochemistry and Applied Genetics, Department of Genetics and Evolution, Center for Biological and Health Sciences, Federal University of S\u00e3o Carlos, S\u00e3o Carlos, S\u00e3o Paulo 13565\u2011905, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Am\u00e9lia","family":"Trindade","sequence":"additional","affiliation":[{"name":"Department of Medicine, Center for Biological and Health Sciences, Federal University of S\u00e3o Carlos, S\u00e3o Carlos, S\u00e3o Paulo, 13565\u2011905, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"2249","published-online":{"date-parts":[[2026,2,19]]},"reference":[{"key":"key20260318135140_b1-BR-24-4-02122","doi-asserted-by":"publisher","first-page":"811","DOI":"10.1016\/0002-9343(62)90214-0","article-title":"Hyperplasia of the juxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis: A new syndrome","volume":"33","author":"Bartter","year":"1962","journal-title":"Am J Med"},{"issue":"1638","key":"key20260318135140_b2-BR-24-4-02122","doi-asserted-by":"publisher","DOI":"10.3390\/medicina59091638","article-title":"Bartter syndrome: A systematic review of case reports and case series","volume":"59","author":"Qasba","year":"2023","journal-title":"Medicina (Kaunas)"},{"key":"key20260318135140_b3-BR-24-4-02122","doi-asserted-by":"publisher","first-page":"1449","DOI":"10.1681\/ASN.V1181449","article-title":"Mutations in the chloride channel gene CLCNKB as a cause of classic bartter syndrome","volume":"11","author":"Konrad","year":"2000","journal-title":"J Am Soc Nephrol"},{"key":"key20260318135140_b4-BR-24-4-02122","doi-asserted-by":"publisher","first-page":"1332","DOI":"10.1086\/301872","article-title":"Novel molecular variants of the Na-K-2Cl cotransporter gene are responsible for antenatal Bartter syndrome","volume":"62","author":"Vargas-Poussou","year":"1998","journal-title":"Am J Hum Genet"},{"key":"key20260318135140_b5-BR-24-4-02122","doi-asserted-by":"publisher","first-page":"183","DOI":"10.1038\/ng0696-183","article-title":"Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2CI cotransporter NKCC2","volume":"13","author":"Simon","year":"1996","journal-title":"Nat Genet"},{"key":"key20260318135140_b6-BR-24-4-02122","doi-asserted-by":"publisher","first-page":"581","DOI":"10.3892\/mmr.2016.6063","article-title":"Genetic heterogeneity in patients with Bartter syndrome type 1","volume":"15","author":"Sun","year":"2017","journal-title":"Mol Med"},{"key":"key20260318135140_b7-BR-24-4-02122","doi-asserted-by":"publisher","first-page":"152","DOI":"10.1038\/ng1096-152","article-title":"Genetic heterogeneity of Bartter's syndrome revealed by mutations in the K+ channel, ROMK","volume":"14","author":"Simon","year":"1996","journal-title":"Nat Genet"},{"issue":"862514","key":"key20260318135140_b8-BR-24-4-02122","doi-asserted-by":"publisher","DOI":"10.3389\/fmed.2022.862514","article-title":"Late-onset bartter syndrome type II due to a novel compound heterozygous mutation in KCNJ1 gene: A case report and literature review","volume":"9","author":"Tian","year":"2022","journal-title":"Front Med (Lausanne)"},{"key":"key20260318135140_b9-BR-24-4-02122","doi-asserted-by":"publisher","first-page":"171","DOI":"10.1038\/ng1097-171","article-title":"Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III","volume":"17","author":"Simon","year":"1997","journal-title":"Nat Genet"},{"issue":"81","key":"key20260318135140_b10-BR-24-4-02122","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2020.00081","article-title":"Splicing characterization of CLCNKB cariants in four patients with type III bartter syndrome","volume":"11","author":"Wang","year":"2020","journal-title":"Front Genet"},{"key":"key20260318135140_b11-BR-24-4-02122","doi-asserted-by":"publisher","first-page":"310","DOI":"10.1038\/ng752","article-title":"Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure","volume":"29","author":"Birkenh\u00e4ger","year":"2001","journal-title":"Nat Genet"},{"key":"key20260318135140_b12-BR-24-4-02122","doi-asserted-by":"publisher","first-page":"128","DOI":"10.1097\/FM9.0000000000000182","article-title":"An unusual case of BSND gene-related (Type IV) bartter syndrome presenting as antenatal bartter syndrome: A case report and review of literature","volume":"5","author":"Shajan","year":"2023","journal-title":"Matern Med"},{"issue":"908655","key":"key20260318135140_b13-BR-24-4-02122","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2022.908655","article-title":"Genetic heterogeneity in bartter syndrome: Clinical and practical importance","volume":"10","author":"Florea","year":"2022","journal-title":"Front Pediatr"},{"issue":"bvac079","key":"key20260318135140_b14-BR-24-4-02122","doi-asserted-by":"publisher","DOI":"10.1210\/jendso\/bvac079","article-title":"The bartter-gitelman Spectrum: 50-year follow-up with revision of diagnosis after whole-genome sequencing","volume":"6","author":"Stevenson","year":"2022","journal-title":"J Endocr Soc"},{"key":"key20260318135140_b15-BR-24-4-02122","doi-asserted-by":"publisher","first-page":"454","DOI":"10.1002\/ajmg.1320590411","article-title":"Infantile variant of bartter syndrome and sensorineural deafness: A new autosornal recessive disorder","volume":"59","author":"Landau","year":"1995","journal-title":"Am Med Genet"},{"key":"key20260318135140_b16-BR-24-4-02122","doi-asserted-by":"publisher","first-page":"727","DOI":"10.1681\/ASN.2017060600","article-title":"Salt-losing tubulopathies in children: What's new, what's controversial?","volume":"29","author":"Kleta","year":"2018","journal-title":"J Am Soc Nephrol"},{"key":"key20260318135140_b17-BR-24-4-02122","doi-asserted-by":"publisher","first-page":"36","DOI":"10.1093\/ckj\/sfaa172","article-title":"Differential diagnosis of perinatal Bartter, Bartter and Gitelman syndromes","volume":"14","author":"Bamgbola","year":"2021","journal-title":"Clin Kidney J"},{"key":"key20260318135140_b18-BR-24-4-02122","doi-asserted-by":"publisher","first-page":"31","DOI":"10.1007\/s12519-020-00370-4","article-title":"Bartter's syndrome: Clinical findings, genetic causes and therapeutic approach","volume":"17","author":"Mrad","year":"2021","journal-title":"World J Pediatr"},{"issue":"55","key":"key20260318135140_b19-BR-24-4-02122","doi-asserted-by":"publisher","DOI":"10.3389\/fphys.2010.00155","article-title":"Physiology and pathophysiology of ClC-K\/barttin channels","volume":"1","author":"Fahlke","year":"2010","journal-title":"Front Physiol"},{"issue":"e48244","key":"key20260318135140_b20-BR-24-4-02122","doi-asserted-by":"publisher","DOI":"10.7759\/cureus.48244","article-title":"Sensorineural hearing loss in patients with chronic kidney disease: A comprehensive review","volume":"15","author":"Agrawal","year":"2023","journal-title":"Cureus"},{"issue":"17077","key":"key20260318135140_b21-BR-24-4-02122","doi-asserted-by":"publisher","DOI":"10.3390\/ijms242317077","article-title":"Expanding genotype-phenotype correlation of CLCNKA and CLCNKB variants linked to hearing loss","volume":"24","author":"Yun","year":"2023","journal-title":"Int J Mol Sci"},{"key":"key20260318135140_b22-BR-24-4-02122","doi-asserted-by":"publisher","first-page":"11411","DOI":"10.1073\/pnas.0601631103","article-title":"Barttin modulates trafficking and function of ClC-K channels","volume":"103","author":"Scholl","year":"2006","journal-title":"Proc Natl Acad Sci USA"},{"key":"key20260318135140_b23-BR-24-4-02122","doi-asserted-by":"publisher","first-page":"8626","DOI":"10.1074\/jbc.RA117.000860","article-title":"Activation of renal ClC-K chloride channels depends on an intact N terminus of their accessory subunit barttin","volume":"293","author":"Wojciechowski","year":"2018","journal-title":"J Biol Chem"},{"key":"key20260318135140_b24-BR-24-4-02122","doi-asserted-by":"publisher","first-page":"5970","DOI":"10.1074\/jbc.RA119.011049","article-title":"DHHC7-mediated palmitoylation of the accessory protein barttin critically regulates the functions of ClC-K chloride","volume":"295","author":"Gorinski","year":"2020","journal-title":"J Biol Chem"},{"key":"key20260318135140_b25-BR-24-4-02122","doi-asserted-by":"publisher","first-page":"81","DOI":"10.2147\/IJNRD.S154000","article-title":"The importance of the thick ascending limb of Henle's loop in renal physiology and pathophysiology","volume":"11","author":"Zacchia","year":"2018","journal-title":"Int J Nephrol Renovasc Dis"},{"key":"key20260318135140_b26-BR-24-4-02122","doi-asserted-by":"publisher","first-page":"179","DOI":"10.1097\/MOP.0000000000000447","article-title":"Bartter's and Gitelman's syndrome","volume":"29","author":"Seyberth","year":"2017","journal-title":"Curr Opin Pediatr"},{"key":"key20260318135140_b27-BR-24-4-02122","doi-asserted-by":"crossref","first-page":"308","DOI":"10.1016\/j.paed.2018.04.011","article-title":"Renal tubular disorders","volume":"28","author":"Broodbank","year":"2018","journal-title":"Paediatr Child Heal (United Kingdom)"},{"key":"key20260318135140_b28-BR-24-4-02122","doi-asserted-by":"publisher","first-page":"302","DOI":"10.1093\/ckj\/sfx118","article-title":"Clinical and diagnostic features of Bartter and Gitelman syndromes","volume":"11","author":"Walsh","year":"2018","journal-title":"Clin Kidney J"},{"key":"key20260318135140_b29-BR-24-4-02122","doi-asserted-by":"publisher","first-page":"1516","DOI":"10.1093\/ndt\/gfr475","article-title":"Genetic basis of Bartter syndrome in Korea","volume":"27","author":"Lee","year":"2012","journal-title":"Nephrol Dial Transplant"},{"key":"key20260318135140_b30-BR-24-4-02122","doi-asserted-by":"publisher","first-page":"781","DOI":"10.1210\/jc.2002-021398","article-title":"Atypical Bartter syndrome with sensorineural deafness with G47R mutation of the beta-subunit for ClC-Ka and ClC-Kb chloride channels, barttin","volume":"88","author":"Miyamura","year":"2003","journal-title":"J Clin Endocrinol Metab"},{"key":"key20260318135140_b31-BR-24-4-02122","doi-asserted-by":"publisher","first-page":"288","DOI":"10.1093\/ndt\/gfl493","article-title":"Unusual adult-onset manifestation of an attenuated Bartter's syndrome type IV renal phenotype caused by a mutation in BSND","volume":"22","author":"Brum","year":"2007","journal-title":"Nephrol Dial Transplant"},{"key":"key20260318135140_b32-BR-24-4-02122","doi-asserted-by":"publisher","first-page":"643","DOI":"10.1007\/s00467-006-0062-1","article-title":"Mutation G47R in the BSND gene causes Bartter syndrome with deafness in two Spanish families","volume":"21","author":"Garc\u00eda-Nieto","year":"2006","journal-title":"Pediatr Nephrol"},{"key":"key20260318135140_b33-BR-24-4-02122","doi-asserted-by":"publisher","first-page":"363","DOI":"10.5414\/CN107687","article-title":"Severe manifestation of bartter syndrome type IV caused by a novel insertion mutation in the BSND gene","volume":"81","author":"de Pablos","year":"2014","journal-title":"Clin Nephrol"},{"key":"key20260318135140_b34-BR-24-4-02122","doi-asserted-by":"publisher","first-page":"631","DOI":"10.1016\/S0140-6736(16)00087-8","article-title":"Renal apnoea: Extreme disturbance of homoeostasis in a child with Bartter syndrome type IV","volume":"388","author":"Plumb","year":"2016","journal-title":"Lancet"},{"key":"key20260318135140_b35-BR-24-4-02122","doi-asserted-by":"publisher","first-page":"841","DOI":"10.1007\/s00467-008-1008-6","article-title":"Deletion of exons 2-4 in the BSND gene causes severe antenatal bartter syndrome","volume":"24","author":"Bircan","year":"2009","journal-title":"Pediatr Nephrol"},{"key":"key20260318135140_b36-BR-24-4-02122","doi-asserted-by":"publisher","first-page":"1056","DOI":"10.1007\/s00467-006-0108-4","article-title":"Barttin mutations in antenatal Bartter syndrome with sensorineural deafness","volume":"21","author":"Ozlu","year":"2006","journal-title":"Pediatr Nephrol"},{"key":"key20260318135140_b37-BR-24-4-02122","doi-asserted-by":"publisher","first-page":"961","DOI":"10.1016\/j.kint.2017.10.016","article-title":"Simultaneous sequencing of 37 genes identified causative mutations in the majority of children with renal tubulopathies","volume":"93","author":"Ashton","year":"2018","journal-title":"Kidney Int"},{"key":"key20260318135140_b38-BR-24-4-02122","doi-asserted-by":"publisher","first-page":"766","DOI":"10.1007\/s00467-006-0090-x","article-title":"Type IV Bartter syndrome: Report of two new cases","volume":"21","author":"Zaffanello","year":"2006","journal-title":"Pediatr Nephrol"},{"key":"key20260318135140_b39-BR-24-4-02122","doi-asserted-by":"publisher","first-page":"273","DOI":"10.1016\/j.ajhg.2009.07.003","article-title":"Molecular basis of DFNB73: Mutations of BSND can cause nonsyndromic deafness or bartter syndrome","volume":"85","author":"Riazuddin","year":"2009","journal-title":"Am J Hum Genet"},{"key":"key20260318135140_b40-BR-24-4-02122","doi-asserted-by":"publisher","first-page":"17","DOI":"10.1016\/j.ijporl.2016.10.028","article-title":"Digenic mutations involving both the BSND and GJB2 genes detected in Bartter syndrome type IV","volume":"92","author":"Wang","year":"2017","journal-title":"Int J Pediatr Otorhinolaryngol"},{"key":"key20260318135140_b41-BR-24-4-02122","doi-asserted-by":"publisher","first-page":"46","DOI":"10.1016\/j.ijporl.2018.07.010","article-title":"Two novel homozygous missense mutations identified in the BSND gene in Moroccan patients with Bartter's syndrome","volume":"113","author":"Elrharchi","year":"2018","journal-title":"Int J Pediatr Otorhinolaryngol"},{"key":"key20260318135140_b42-BR-24-4-02122","doi-asserted-by":"publisher","first-page":"190","DOI":"10.1007\/s00467-005-2091-6","article-title":"A compound heterozygous mutation in the BSND gene detected in Bartter syndrome type IV","volume":"21","author":"Kitanaka","year":"2006","journal-title":"Pediatr Nephrol"},{"key":"key20260318135140_b43-BR-24-4-02122","doi-asserted-by":"publisher","first-page":"604","DOI":"10.1590\/S1679-45082015RC3013","article-title":"Adult presentation of Bartter syndrome type IV with erythrocytosis","volume":"13","author":"Heilberg","year":"2015","journal-title":"Einstein (S\u00e3o Paulo)"},{"issue":"180","key":"key20260318135140_b44-BR-24-4-02122","doi-asserted-by":"publisher","DOI":"10.1007\/s13205-017-0851-1","article-title":"A quick and effective in-house method of DNA purification from agarose gel, suitable for sequencing","volume":"7","author":"Abraham","year":"2017","journal-title":"3 Biotech"},{"key":"key20260318135140_b45-BR-24-4-02122","doi-asserted-by":"publisher","first-page":"361","DOI":"10.1038\/nmeth.2890","article-title":"Mutationtaster2: Mutation prediction for the deep-sequencing age","volume":"11","author":"Schwarz","year":"2014","journal-title":"Nat Methods"},{"key":"key20260318135140_b46-BR-24-4-02122","doi-asserted-by":"publisher","first-page":"D886","DOI":"10.1093\/nar\/gky1016","article-title":"CADD: Predicting the deleteriousness of variants throughout the human genome","volume":"47","author":"Rentzsch","year":"2019","journal-title":"Nucleic Acids Res"},{"key":"key20260318135140_b47-BR-24-4-02122","doi-asserted-by":"publisher","first-page":"182","DOI":"10.1136\/jmg.2007.052944","article-title":"Molecular analysis of digenic inheritance in Bartter syndrome with sensorineural deafness","volume":"45","author":"Nozu","year":"2008","journal-title":"J Med Genet"},{"key":"key20260318135140_b48-BR-24-4-02122","doi-asserted-by":"publisher","first-page":"1314","DOI":"10.1056\/NEJMoa032843","article-title":"Salt wasting and deafness resulting from mutations in two chloride channels","volume":"350","author":"Schlingmann","year":"2004","journal-title":"N Engl J Med"},{"key":"key20260318135140_b49-BR-24-4-02122","doi-asserted-by":"publisher","first-page":"558","DOI":"10.1038\/35107099","article-title":"Barttin is a Cl-channel beta-subunit crucial for renal Cl-reabsorption and inner ear K+ secretion","volume":"414","author":"Est\u00e9vez","year":"2001","journal-title":"Nature"},{"key":"key20260318135140_b50-BR-24-4-02122","doi-asserted-by":"publisher","first-page":"858","DOI":"10.1016\/j.bbrc.2007.08.097","article-title":"Barttin binds to the outer lateral surface of the ClC-K2 chloride channel","volume":"362","author":"Tajima","year":"2007","journal-title":"Biochem Biophys Res Commun"},{"key":"key20260318135140_b51-BR-24-4-02122","doi-asserted-by":"publisher","first-page":"145","DOI":"10.1681\/ASN.2008010102","article-title":"Disease-causing dysfunctions of barttin in Bartter syndrome type IV","volume":"20","author":"Janssen","year":"2009","journal-title":"J Am Soc Nephrol"},{"issue":"127","key":"key20260318135140_b52-BR-24-4-02122","doi-asserted-by":"publisher","DOI":"10.1186\/s12881-020-01061-7","article-title":"A novel pathogenic variant in the LRTOMT gene causes autosomal recessive non-syndromic hearing loss in an Iranian family","volume":"21","author":"Sarmadi","year":"2020","journal-title":"BMC Med Genet"},{"issue":"8826","key":"key20260318135140_b53-BR-24-4-02122","doi-asserted-by":"publisher","DOI":"10.3390\/ijms24108826","article-title":"Novel genetic variants expand the functional, molecular, and pathological diversity of KCNA1 Channelopathy","volume":"24","author":"Paulhus","year":"2023","journal-title":"Int J Mol Sci"},{"key":"key20260318135140_b54-BR-24-4-02122","doi-asserted-by":"publisher","first-page":"1528","DOI":"10.1530\/EC-18-0484","article-title":"Liddle syndrome misdiagnosed as primary aldosteronism resulting from a novel frameshift mutation of SCNN1B","volume":"7","author":"Fan","year":"2018","journal-title":"Endocr Connect"},{"issue":"e15341","key":"key20260318135140_b55-BR-24-4-02122","doi-asserted-by":"publisher","DOI":"10.14814\/phy2.15341","article-title":"Multiple mechanisms underlie reduced potassium conductance in the p. T1019PfsX38 variant of hERG","volume":"10","author":"Al Salmani","year":"2022","journal-title":"Physiol Rep"},{"key":"key20260318135140_b56-BR-24-4-02122","doi-asserted-by":"publisher","first-page":"101614","DOI":"10.18632\/oncotarget.21355","article-title":"Mutation spectrum of Chinese patients with Bartter syndrome","volume":"8","author":"Han","year":"2017","journal-title":"Oncotarget"},{"issue":"5641","key":"key20260318135140_b57-BR-24-4-02122","doi-asserted-by":"publisher","DOI":"10.3390\/ijms23105641","article-title":"Clinical and genetic characterization of patients with bartter and gitelman syndrome","volume":"23","author":"Palazzo","year":"2022","journal-title":"Int J Mol Sci"}],"container-title":["Biomedical Reports"],"original-title":[],"deposited":{"date-parts":[[2026,3,18]],"date-time":"2026-03-18T11:51:47Z","timestamp":1773834707000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.spandidos-publications.com\/10.3892\/br.2026.2122"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,2,19]]},"references-count":57,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2026,2,19]]}},"URL":"https:\/\/doi.org\/10.3892\/br.2026.2122","relation":{},"ISSN":["2049-9434","2049-9442"],"issn-type":[{"value":"2049-9434","type":"print"},{"value":"2049-9442","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,2,19]]}}}