Novel Intronic Mutations of the SLC12A3 Gene in Patients with Gitelman Syndrome

References

• Gitelman HJ, Graham JB, Welt LG. A new familial disorder characterized by hypokalemia and hypomagnesemia. Trans Assoc Am Physicians. 1966;79:221–235.
   PubMedGoogle Scholar
• Mastroianni N, Bettinelli A, Bianchetti M, et al. Novel molecular variants of the Na-Cl cotransporter gene are responsible for Gitelman syndrome. Am J Hum Genet. 1996;59(5):1019–1026.
   PubMed Web of Science ®Google Scholar
• Knoers NV, Levtchenko EN. Gitelman syndrome. Orphanet J Rare Dis. 2008;3:22. doi:10.1186/1750-1172-3-22
   PubMed Web of Science ®Google Scholar
• Tago N, Kokubo Y, Inamoto N, Naraba H, Tomoike H, Iwai N. A high prevalence of Gitelman’s syndrome mutations in Japanese. Hypertens Res. 2004;27(5):327–331. doi:10.1291/hypres.27.327
   PubMed Web of Science ®Google Scholar
• Rossanti R, Horinouchi T, Sakakibara N, et al. Detecting pathogenic deep intronic variants in Gitelman syndrome. Am J Med Genet A. 2022;188(9):2576–2583. doi:10.1002/ajmg.a.62885
   PubMed Web of Science ®Google Scholar
• Lo YF, Nozu K, Iijima K, et al. Recurrent deep intronic mutations in the SLC12A3 gene responsible for Gitelman’s syndrome. Clin J Am Soc Nephrol. 2011;6(3):630–639. doi:10.2215/cjn.06730810
   PubMed Web of Science ®Google Scholar
• Zeng Y, Li P, Fang S, et al. Genetic Analysis of SLC12A3 Gene in Chinese Patients with Gitelman Syndrome. Med Sci Monit. 2019;25:5942–5952. doi:10.12659/msm.916069
   PubMed Web of Science ®Google Scholar
• Fujimura J, Nozu K, Yamamura T, et al. Clinical and Genetic Characteristics in Patients With Gitelman Syndrome. Kidney Int Rep. 2019;4(1):119–125. doi:10.1016/j.ekir.2018.09.015
   PubMed Web of Science ®Google Scholar
• Blanchard A, Bockenhauer D, Bolignano D, et al. Gitelman syndrome: consensus and guidance from a Kidney Disease: improving Global Outcomes (KDIGO) Controversies Conference. Kidney Int. 2017;91(1):24–33. doi:10.1016/j.kint.2016.09.046
   PubMed Web of Science ®Google Scholar
• Kohda M, Tokuzawa Y, Kishita Y, et al. A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies. PLoS Genet. 2016;12(1):e1005679. doi:10.1371/journal.pgen.1005679
   PubMed Web of Science ®Google Scholar
• Miyatake S, Koshimizu E, Fujita A, et al. Detecting copy-number variations in whole-exome sequencing data using the eXome Hidden Markov Model: an ‘exome-first’ approach. J Hum Genet. 2015;60(4):175–182. doi:10.1038/jhg.2014.124
   PubMed Web of Science ®Google Scholar
• Packer JS, Maxwell EK, O’Dushlaine C, et al. CLAMMS: a scalable algorithm for calling common and rare copy number variants from exome sequencing data. Bioinformatics. 2016;32(1):133–135. doi:10.1093/bioinformatics/btv547
   PubMed Web of Science ®Google Scholar
• Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405–424. doi:10.1038/gim.2015.30
   PubMed Web of Science ®Google Scholar
• Glaudemans B, Yntema HG, San-Cristobal P, et al. Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndrome. Eur J Hum Genet. 2012;20(3):263–270. doi:10.1038/ejhg.2011.189
   PubMed Web of Science ®Google Scholar
• Shao L, Liu L, Miao Z, et al. A novel SLC12A3 splicing mutation skipping of two exons and preliminary screening for alternative splice variants in human kidney. Am J Nephrol. 2008;28(6):900–907. doi:10.1159/000141932
   PubMed Web of Science ®Google Scholar
• Zahed H, Sparks TN, Li B, Alsadah A, Shieh JTC. Potential Role of Genomic Sequencing in the Early Diagnosis of Treatable Genetic Conditions. J Pediatr. 2017;189:222–226.e1. doi:10.1016/j.jpeds.2017.06.040
   PubMed Web of Science ®Google Scholar
• Bao M, Cai J, Yang X, Ma W. Genetic screening for Bartter syndrome and Gitelman syndrome pathogenic genes among individuals with hypertension and hypokalemia. Clin Exp Hypertens. 2019;41(4):381–388. doi:10.1080/10641963.2018.1489547
   PubMed Web of Science ®Google Scholar
• Abuladze N, Yanagawa N, Lee I, et al. Peripheral blood mononuclear cells express mutated NCCT mRNA in Gitelman’s syndrome: evidence for abnormal thiazide-sensitive NaCl cotransport. J Am Soc Nephrol. 1998;9(5):819–826. doi:10.1681/asn.V95819
   PubMed Web of Science ®Google Scholar
• Filippatos TD, Rizos CV, Tzavella E, Elisaf MS. Gitelman syndrome: an analysis of the underlying pathophysiologic mechanisms of acid-base and electrolyte abnormalities. Int Urol Nephrol. 2018;50(1):91–96. doi:10.1007/s11255-017-1653-4
   PubMed Web of Science ®Google Scholar
• Jiang L, Chen C, Yuan T, et al. Clinical severity of Gitelman syndrome determined by serum magnesium. Am J Nephrol. 2014;39(4):357–366. doi:10.1159/000360773
   PubMed Web of Science ®Google Scholar
• Liu T, Wang C, Lu J, Zhao X, Lang Y, Shao L. Genotype/Phenotype Analysis in 67 Chinese Patients with Gitelman’s Syndrome. Am J Nephrol. 2016;44(2):159–168. doi:10.1159/000448694
   PubMed Web of Science ®Google Scholar
• Viering D, de Baaij JHF, Walsh SB, Kleta R, Bockenhauer D. Genetic causes of hypomagnesemia, a clinical overview. Pediatr Nephrol. 2017;32(7):1123–1135. doi:10.1007/s00467-016-3416-3
   PubMed Web of Science ®Google Scholar
• Ceri M, Unverdi S, Altay M, et al. Focal segmental glomerulosclerosis in association with Gitelman syndrome. Int Urol Nephrol. 2011;43(3):905–907. doi:10.1007/s11255-010-9802-z
   PubMed Web of Science ®Google Scholar
• Hanevold C, Mian A, Dalton R. C1q nephropathy in association with Gitelman syndrome: a case report. Pediatr Nephrol. 2006;21(12):1904–1908. doi:10.1007/s00467-006-0261-9
   PubMed Web of Science ®Google Scholar
• Chen Q, Wu Y, Zhao J, Jia Y, Wang W. A case of hypokalemia and proteinuria with a new mutation in the SLC12A3 Gene. BMC Nephrol. 2018;19(1):275. doi:10.1186/s12882-018-1083-2
   PubMedGoogle Scholar
• Ellison DH. The thiazide-sensitive na-cl cotransporter and human disease: reemergence of an old player. J Am Soc Nephrol. 2003;14(2):538–540. doi:10.1681/asn.V142538
   PubMed Web of Science ®Google Scholar
• Ma J, Ren H, Lin L, et al. Genetic Features of Chinese Patients with Gitelman Syndrome: sixteen Novel SLC12A3 Mutations Identified in a New Cohort. Am J Nephrol. 2016;44(2):113–121. doi:10.1159/000447366
   PubMed Web of Science ®Google Scholar
• Wang F, Shi C, Cui Y, Li C, Tong A. Mutation profile and treatment of Gitelman syndrome in Chinese patients. Clin Exp Nephrol. 2017;21(2):293–299. doi:10.1007/s10157-016-1284-6
   PubMed Web of Science ®Google Scholar
• Bouwer ST, Coto E, Santos F, Angelicheva D, Chandler D, Kalaydjieva L. The Gitelman syndrome mutation, IVS9+1G>T, is common across Europe. Kidney Int. 2007;72(7):898. doi:10.1038/sj.ki.5002504
   PubMed Web of Science ®Google Scholar
• Gu X, Su Z, Chen M, Xu Y, Wang Y. Acquired Gitelman syndrome in a primary Sjögren syndrome patient with a SLC12A3 heterozygous mutation: a case report and literature review. Nephrology. 2017;22(8):652–655. doi:10.1111/nep.13045
   PubMed Web of Science ®Google Scholar
• Gil-Peña H, Coto E, Santos F, et al. A new SLC12A3 founder mutation (p.Val647Met) in Gitelman’s syndrome patients of Roma ancestry. Nefrologia. 2017;37(4):423–428. doi:10.1016/j.nefro.2017.01.007
   PubMed Web of Science ®Google Scholar
• Anna A, Monika G. Splicing mutations in human genetic disorders: examples, detection, and confirmation. J Appl Genet. 2018;59(3):253–268. doi:10.1007/s13353-018-0444-7
   PubMed Web of Science ®Google Scholar