Recurrent deep intronic mutations in the SLC12A3 gene responsible for Gitelman's syndrome

Clinical Journal of the American Society of Nephrology

Volumn 6, Issue 3, 2011, Pages 630-639

  Lo, Yi Fen ^a,b   Nozu, Kandai ^c   Iijima, Kazumoto ^c   Morishita, Takahiro ^d   Huang, Che Chung ^a,b   Yang, Sung Sen ^a,b   Sytwu, Huey Kang ^a   Fang, Yu Wei ^e   Tseng, Min Hua ^a,b   Lin, Shih Hua ^a,b  

^a NATIONAL DEFENSE MEDICAL CENTER   (Taiwan)

^b TRI SERVICE GENERAL HOSPITAL   (Taiwan)

^c KOBE UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^d Kitakyushu General Hospital   (Japan)

^e SHIN KONG WU HO SU MEMORIAL HOSPITAL   (Taiwan)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; GENOMIC DNA; MESSENGER RNA; SODIUM CHLORIDE COTRANSPORTER;

ABORIGINE; ADULT; ARTICLE; CLINICAL ARTICLE; FEMALE; GENE MUTATION; GENE SEQUENCE; GITELMAN SYNDROME; HAPLOTYPE; HETEROZYGOSITY; HUMAN; HUMAN TISSUE; INTRON; KIDNEY BIOPSY; LEUKOCYTE; MALE; PROTEIN EXPRESSION;

ACADEMIC MEDICAL CENTERS; ADULT; BASE SEQUENCE; BIOPSY; CASE-CONTROL STUDIES; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GITELMAN SYNDROME; HAPLOTYPES; HUMANS; INTRONS; KIDNEY; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PHENOTYPE; RECEPTORS, DRUG; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SYMPORTERS; TAIWAN;

EID: 79953008189     PISSN: 15559041     EISSN: 1555905X     Source Type: Journal    
DOI: 10.2215/CJN.06730810     Document Type: Article

References (44)

1. Gitelman HJ, Graham JB, Welt GL: A new familial disorder characterized by hypokalemia and hypomagnesemia. Trans Assoc Am Physicians 79: 211-235, 1996
2. Cruz DN, Shaer AJ, Bia MJ, Lifton RP, Simon DB: Gitelman's syndrome revisited: An evaluation of symptoms and health-related quality of life. Kidney Int 59: 710-717, 2001 (Pubitemid 32157936)
3. Simon DB, Nelson-Williams C, Bia MJ, Ellison D, Karet FE, Molina AM, Vaara I, Iwata F, Cushner HM, Koolen M, Gainza FJ, Gitleman HJ, Lifton RP: Gitelman's variant of Bartter's syndrome, inherited hypokalemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter. Nat Genet 12: 24-30, 1996 (Pubitemid 26011315)
4. Mastroianni N, Bettinelli A, Bianchetti M, Colussi G, De Fusco M, Sereni F, Ballabio A, Casari G: Novel molecular variants of the Na-Cl cotransporter gene are responsible for Gitelman syndrome. Am J Hum Genet 59: 1019-1026, 1996 (Pubitemid 26346341)
5. Simon DB, Bindra RS, Mansfield TA, Nelson-Williams C, Mendonca E, Stone R, Schurman S, Nayir A, Alpay H, Bakkaloglu A, Rodriguez-Soriano J, Morales JM, Sanjad SA, Taylor CM, Pilz D, Brem A, Trachtman H, Griswold W, Richard GA, Jonh E, Lifton RP: Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III. Nat Genet 17: 171-178, 1997 (Pubitemid 27425949)
6. Knoers NV, Levtchenko EN: Gitelman syndrome. Orphanet J Rare Dis 3: 22, 2008
7. Zelikovic I, Szargel R, Hawash A, Labay V, Hatib I, Cohen N, Nakhoul F: A novel mutation in the chloride channel gene, CLCNKB, as a cause of Gitelman and Bartter syndromes. Kidney Int 63: 24-32, 2003 (Pubitemid 35469173)
8. Lemmink HH, Knoers NV, Karolyi L, van Dijk H, Niaudet P, Antignac C, Guay-Woodford LM, Goodyer PR, Carel JC, Hermes A, Seyberth HW, Monnens LA, van den Heuvel LP: Novel mutations in the thiazide-sensitive NaCl cotransporter gene in patients with Gitelman syndrome with predominant localization to the C-terminal domain. Kidney Int 54: 720-730, 1998 (Pubitemid 28397390)
9. Monkawa T, Kurihara I, Kobayashi K, Hayashi M, Saruta T: Novel mutations in thiazide-sensitive Na-Cl cotransporter gene of patients with Gitelman's syndrome. J Am Soc Nephrol 11: 65-70, 2000 (Pubitemid 30020427)
10. Peters M, Jeck N, Reinalter S, Leonhardt A, Tonshoff B, Klaus GG, Konrad M, Seyberth HW: Clinical presentation of genetically defined patients with hypokalemic salt-losing tubulopathies. Am J Med 112: 183-190, 2002
11. Lin SH, Cheng NL, Hsu YJ, Halperin ML: Intrafamilial phenotype variability in patients with Gitelman syndrome having the same mutations in their thiazide-sensitive sodium/chloride cotransporter. Am J Kidney Dis 43: 304-312, 2004
12. Reissinger A, Ludwig M, Utsch B, Promse A, Baulmann J, Weisser B, Vetter H, Kramer HJ, Bokemeyer D: Novel NCCT gene mutations as a cause of Gitelman's syndrome and a systematic review of mutant and polymorphic NCCT alleles. Kidney Blood Press Res 25: 354-362, 2002 (Pubitemid 36206672)
13. Shao L, Ren H, Wang W, Zhang W, Feng X, Li X, Chen N: Novel SLC12A3 mutations in Chinese patients with Gitelman's syndrome. Nephrol Physiol 108: 29-36, 2008
14. Gamba G: Molecular physiology and pathophysiology of electroneutral cation-chloride cotransporters. Physiol Rev 85: 423-493, 2005
15. Lin SH, Shiang JC, Huang CC, Yang SS, Hsu YJ, Cheng CJ: Phenotype and genotype analysis in Chinese patients with Gitelman's syndrome. J Clin Endocrinol Metab 90: 2500-2507, 2005
16. Riveira-Munoz E, Chang Q, Godefroid N, Hoenderop JG, Bindels RJ, Dahan K, Devuyst O: Transcriptional and functional analyses of SLC12A3 mutations: New clues for the pathogenesis of Gitelman syndrome. J Am Soc Nephrol 18: 1271-1283, 2007 (Pubitemid 46536913)
17. Nozu K, Krol RP, Nakanishi K, Yoshikawa N, Nozu Y, Ohtsuka Y, Iijima K, Matsuo M: Detection by multiplex ligation-dependent probe amplification of large deletion mutations in the COL4A5 gene in female patients with Alport syndrome. Pediatr Nephrol 24: 1773-1774, 2009
18. Huang CH, Chang YY, Chen CH, Kuo YS, Hwu WL, Gerdes T, Ko TM: Copy number analysis of survival motor neuron genes by multiplex ligation-dependent probe amplication. Genet Med 9: 241-248, 2007 (Pubitemid 46626094)
19. Coutinho G, Xie J, Du L, Brusco A, Krainer AR, Gatti RA: Functional significance of a deep intronic mutation in the ATM gene and evidence for an alternative exon 28a. Hum Mutat 25: 118-124, 2005 (Pubitemid 40216607)
20. Davis RL, Homer VM, George PM, Brennan SO: A deep intronic mutation in FGB creates a consensus exonic splicing enhancer motif that results in afibrinogenemia caused by aberrany mRNA splicing, which can be corrected in vitro with antisense oligonucleotide treatment. Hum Mutat 30: 221-227, 2009
21. Nozu K, Iijima K, Kawai K, Nozu Y, Nishida A, Takeshima Y, Fu XJ, Hashimura Y, Kaito H, Nashimura Y, Kaito H, Nakanishi K, Yoshikawa N, Matsuo M: In vivo and in vitro splicing assay of SLC12A1 in an antenatal salt-losing tubulopathy patient with an intronic mutation. Hum Genet 126: 533-538, 2009
22. Abuladze N, Yanagawa N, Lee I, Jo OD, Newman D, Hwang J, Uyemura K, Pushkin A, Modlin RL, Kurtz I: Peripheral blood mononuclear cells express mutated NCCT mRNA in Gitelman's syndrome: Evidence for abnormal thiazide-sensitive NaCl cotransport. J Am Soc Nephrol 9: 819-826, 1998
23. --cotransporter S707X knockin mice as a model of Gitelman's syndrome. Hum Mutat 2010, in press
24. Syren ML, Tedeschi S, Cesareo L, Bellantuono R, Colussi G, Procaccio M, Alì A, Domenici R, Malberti F, Sprocati M, Sacco M, Miglietti N, Edefonti A, Sereni F, Casari G, Coviello DA, Bettinelli A: Identification of fifteen novel mutations in the SLC12A3 gene encoding the Na-Cl co-transporter in Italian patients with Gitelman syndrome. Hum Mutat 20: 78, 2002
25. Coto E, Rodriguez J, Jeck N, Alvarez V, Stone R, Loris C, Rodriguez LM, Fischbach M, Seyberth HW, Santos F: A new mutation (intron 9 + 1 G>T) in the SLC12A3 gene is linked to Gitelman syndrome in Gypsies. Kidney Int 65: 25-29, 2004 (Pubitemid 38037488)
26. Maki N, Komatsuda A, Wakui H, Ohtani H, Kigawa A, Aiba N, Hamai K, Motegi M, Yamaguchi A, Imai H, Sawada K: Four novel mutations in the thiazide-sensitive Na-Cl co-transporter gene in Japanese patients with Gitelman's syndrome. Nephrol Dial Transplant 19: 1761-1766, 2004 (Pubitemid 38961384)
27. Fava C, Montagnana M, Rosberg L, Burri P, Jönsson A, Wanby P, Wahrenberg H, Hulthén UL, Aurell M, Guidi GC, Melander O: Novel mutations in the SLC12A3 gene causing Gitelman's syndrome in Swedes. DNA Seq 18: 395-399, 2007 (Pubitemid 47123872)
28. King K, Flinter FA, Nihalani V, Green PM: Unuusal deep intronic mutations in the COL4A5 gene cause X-linked Alport syndrome. Hum Genet 111: 548-554, 2002 (Pubitemid 36075087)
29. Kaito H, Nozu K, Fu XJ, Kamioka I, Fujita T, Kanda K, Krol RP, Suminaga R, Ishida A, Iijima K, Matsuo M: Detection of a transcript abnormality in mRNA of the SLC12A3 gene extracted from urinary sediment cells of a patient with Gitelman's syndrome. Pediatr Res 61: 502-505, 2007 (Pubitemid 46569308)
30. Igarashi T, Inatomi, Ohara T, Kuwahara T, Shimadzu M, Thakker RV: Clinical and genetic studies of CLCN5 mutations in Japanese families with Dent's disease. Kidney Int 58: 520-527, 2000 (Pubitemid 30620001)
31. King K, Flinter FA, Green PM: A two-tier approach to mutation detection in the COL4A5 gene for Alport syndrome. Hum Mutat 27: 1061, 2006
32. Michel-Calemard L, Dijoud F, Till M, Lambert JC, Vercherat M, Tardy V, Coubes C, Morel Y: Pseudoexon activation in the PKHD1 gene: A French founder intronic mutation IVS+653A>G causing severe autosomal recessive polycystic kidney disease. Clin Genet 75: 203-206, 2009
33. Jang HR, Lee JW, Oh JW, Oh YK, Na KY, Joo KW, Jeon US, Cheong HI, Kim J, Han JS: From bench to bedside: Diagnosis of Gitelman's syndrome: Defect of sodium-chloride cotransporter in renal tissue. Kidney Int 70: 813-817, 2006 (Pubitemid 44215360)
34. Joo KW, Lee JW, Jang HR, Heo NJ, Jeon US, Oh YK, Lim CS, Na KY, Kim J, Cheong HI, Han JS: Reduced urinary excretion of thiazide-sensitive Na-Cl cotransporter in Gitelman syndrome: Preliminary data. Am J Kidney Dis 50: 765-773, 2007 (Pubitemid 47588555)
35. Nozu K, Iijima K, Nozu Y, Ikegami E, Imai T, Fu XJ, Kaito H, Nakanishi K, Yoshikawa N, Matsuo M: A deep intronic mutation in the SLC12A3 gene leads to Gitelman syndrome. Pediatr Res 66: 590-593, 2009
36. Melton T, Clifford S, Martinson J, Batzer M, Stoneking M: Genetic evidence for the proto-Austronesian homeland in Asia: mtDNA and nuclear DNA variation in Taiwanese aboriginal tribes. Am J Hum Genet 63: 1807-1823, 1998
37. Trejaut JA, Kivisild T, Loo JH, Lee CL, He CL, Hsu CJ, Lee ZY, Lin M: Traces of archaic mitochondrial lineages persist in Austronesian-speaking Formosan populations. PLoS Biol 3: 1362-1372, 2005
38. De Jong JC, Van Der Vliet WA, Van Den Heuvel LP, Willems PH, Knoers NV, Bindels RJ: Functional expression of mutations in the human NaCl cotransporter: Evidence for impaired routing mechanisms in Gitelman's syndrome. J Am Soc Nephrol 13: 1442-1448, 2002 (Pubitemid 34579232)
39. Yang SS, Morimoto T, Rai T, Chiga M, Sohara E, Ohno M, Uchida K, Lin SH, Moriguchi T, Shibuya H, Knodo Y, Sasaki S, Uchida S: Molecular pathogenesis of pseudohypoaldosteronism type II: Generation and analysis of a Wnk4 (D561A/+) knockin mouse model. Cell Metab 5: 331-344, 2007 (Pubitemid 46679517)
40. Yang SS, Lo YF, Wu CC, Lin SW, Yeh CJ, Chu P, Sytwu HK, Uchida S, Sasaki S, Lin SH: SPAK knockout mice manifest Gitelman's syndrome and impaired vasoconstriction. J Am Soc Nephrol 21: 1868-1877, 2010
41. van Deutekom JC, Bremmer-Bout M, Janson AA, Ginjaar IB, Baas F, den Dunnen JT, van Ommen GJ: Antisense-induced exon skipping restores dystrophin expression in DMD patient derived muscle cells. Hum Mol Genet 10: 1547-1554, 2001 (Pubitemid 32734306)
42. Ugarte M, Aguado C, Desviat LR, Sanchez-Alcudia R, Rincon A, Perez B: Propionic and methylmalonic acidemia: Antisense therapeutics for intronic variations causing aberrantly splicing messenger RNA. Am J Hum Genet 81: 1262-1268, 2007
43. Gurvish OL, Tuohy TM, Howard MT, Finkel RS, Medne L, Anderson CB, Weiss RB, Wilton SD, Flanigan KM: DMD pseudoexon mutations: Splicing efficiency, phenotype, and potential therapy. Ann Neurol 63: 81-89, 2008 (Pubitemid 351240554)
44. Pros E, Fernandez-Rodriguez J, Canet B, Benito L, Sanchez A, Benavides A, Ramos FJ, Lopez-Ariztegui MA, Capella G, Blanco I, Serra E, Lazaro C: Antisense therapeutics for neurofibromatosis type 1 caused by deep intronic mutations. Hum Mutat 30: 454-462, 2009