A novel initial codon mutation of the thiazide-sensitive Na-Cl cotransporter gene in a Japanese patient with Gitelman's syndrome

Endocrine Journal

Volumn 55, Issue 3, 2008, Pages 557-560

  Aoki, Kazutaka ^a   Tajima, Toshihiro ^b   Yabushita, Yasuhiro ^a   Nakamura, Akinobu ^a   Nezu, Uru ^a   Takahashi, Mayumi ^a   Kimura, Mari ^a   Terauchi, Yasuo ^a  

^a YOKOHAMA CITY UNIVERSITY   (Japan)

^b HOKKAIDO UNIVERSITY   (Japan)

Author keywords

Gitelman's syndrome; TSC gene

Indexed keywords

CHLORIDE; FUROSEMIDE; GENOMIC DNA; MAGNESIUM; POTASSIUM; SODIUM CHLORIDE COTRANSPORTER; THIAZIDE DIURETIC AGENT;

ADULT; ARTICLE; CASE REPORT; CLINICAL FEATURE; CODON; COMPREHENSION; CONTROLLED STUDY; EXON; GENE FUNCTION; GENE MUTATION; GENE SEQUENCE; GENETIC COUNSELING; GITELMAN SYNDROME; HOSPITAL; HUMAN; HYPERALDOSTERONISM; HYPERRENINEMIA; HYPOCALCIURIA; HYPOKALEMIA; HYPOMAGNESEMIA; INSOMNIA; JAPANESE; KIDNEY CLEARANCE; KIDNEY DISEASE; KIDNEY FUNCTION TEST; KIDNEY TUBULE ABSORPTION; KNOWLEDGE; LABORATORY TEST; MALE; METABOLIC ALKALOSIS; PATHOPHYSIOLOGY; TINNITUS;

ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CODON, INITIATOR; DNA MUTATIONAL ANALYSIS; GITELMAN SYNDROME; HUMANS; MALE; MIDDLE AGED; POINT MUTATION; RECEPTORS, DRUG; SYMPORTERS;

EID: 46749123913     PISSN: 09188959     EISSN: 13484540     Source Type: Journal    
DOI: 10.1507/endocrj.K07E-113     Document Type: Article

References (21)

1. Gitelman H, Graham J, Welt L (1966) A new familial disorder characterized by hypokalemia and hypomagnesemia. Trans Assoc Am Physicians 79: 92-96.
2. Simon DB, Karet FE, Hamdan JM, DiPietro A, Sanjad SA, Lifton RP (1996) Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2C1 cotransporter NKCC2, Nat Genet 13: 183-188.
3. Simon DB, Karet FE, Rodriguez-Soriano J, Hamdan JH, DiPietro A, Trachtman H, Sanjad SA, Lifton RP (1996) Nat Genet 14: 152-156.
4. 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, John E, Lifton RP (1997) Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III. Nat Genet 17: 171-178.
5. 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 (1996) 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.
6. Mastroianni N, De Fusco M, Zollo M, Arrigo G, Zuffardi O, Bettinelli A, Ballabio A, Casari G (1996 ) Molecular cloning, expression pattern, and chromosomal localization of the human Na-Cl thiazide-sensitive cotransporter (SLC12A3). Genomics 35: 486-193.
7. Gamba G, Miyanoshita A, Lombardi M, Lytton J, Lee WS, Hediger MA, Hebert SC (1994) Molecular cloning, primary structure, and characterization of two members of the mammalian electroneutral sodium-(potassium)-chloride cotransporter family expressed in kidney J Biol Chem 269: 17713-17722.
8. Obermüller N, Bernstein P, Velázquez H, Reilly R, Moser D, Ellison DH, Bachmann S (1995) Expression of the thiazide-sensitive Na-Cl cotransporter in rat and human kidney. Am J Physiol 269: F900-910.
9. Knoers NV (2006) Gitelman syndrome. Adv Chronic Kidney Dis 13: 148-154.
10. Iida K, Hanafusa M, Maekawa I, Kudo T, Takahashi K, Yoshioka S, Kishimoto M, Iguchi G, Tsukamoto T, Okimura Y, Kaji H, Chihara K (2004) A novel splice site mutation of the thiazide-sensitive NaCl cotransporter gene in a Japanese patient with Gitelman syndrome. Clirt Nephrol 62: 180-184.
11. Tajima T, Kobayashi Y, Abe S, Takahashi M, Konno M, Nakae J, Okuhara K, Satoh K, Ishikawa T, Imai T, Fujieda K (2002) Two novel mutations of thiazide-sensitive Na-Cl cotransporter (TSC) gene in two sporadic Japanese patients with Gitelman syndrome. Endocr J 49: 91-96.
12. Terui K, Shoji M, Yamashiki J, Hirai Y, Ishiguro A, Tsutaya S, Kageyama K, Yasujima M, Suda T (2006) A novel mutation of the thiazide-sensitive sodium chloride cotransporter gene in a Japanese family with Gitelman syndrome. Clin Nephrol 65: 57-60.
13. Tsukamoto T, Kobayashi T, Kawamoto K, Fukase M, Chihara K. Possible discrimination of Gitelman's syndrome from Bartter's syndrome by renal clearance study: report of two cases. (1995) Am J Kidney Dis 25: 637-641.
14. Bettinelli A, Bianchetti MG, Borella P, Volpini E, Metta MG, Basilico E, Selicorni A, Bargellini A, Grassi MR (1995) Genetic heterogeneity in tubular hypomagnesemia-hypokalemia with hypocalcuria (Gitelman's syndrome). Kidney Int 47: 547-551.
15. Bettinelli A, Bianchetti MG, Girardin E, Caringella A, Cecconi M, Appiani AC, Pavanello L, Gastaldi R, Isimbaldi C, Lama G, et al. (1992) Use of calcium excretion values to distinguish two forms of primary renal tubular hypokalemic alkalosis: Bartter and Gitelman syndromes. J Pediatr 120: 38-43.
16. Mastroianni N, Bettinelli A, Bianchetti M, Colussi G, De Fusco M, Sereni F, Ballabio A, Casari G (1996) Novel molecular variants of the Na-Cl cotransporter gene are responsible for Gitelman syndrome. Am J Hum Genet 59: 1019-1026.
17. De Jong JC, Van Der Vliet WA, Van Den Heuvel LP, Willems PH, Knoers NV, Bindels RJ (2002) 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.
18. Kunchaparty S, Palcso M, Berkman J, Velázquez H, Desir GV, Bernstein P, Reilly RF, Ellison DH (1999) Defective processing and expression of thiazide-sensitive Na-Cl cotransporter as a cause of Gitelman's syndrome. Am J Physiol 277: F643-649.
19. Christensen JH, Siggaard C, Corydon TJ, deSanctis L, Kovacs L, Robertson GL, Gregersen N, Rittig S (2004) Six novel mutations in the arginine vasopressin gene in 15 kindreds with autosomal dominant familial neuro-hypophyseal diabetes insipidus give further insight into the pathogenesis. Eur J Hum Genet 12: 44-51.
20. Rutishauser J, Böni-Schnetzler M, Böni J, Wichmann W, Huisman T, Vallotton MB, Froesch ER (1996) A novel point mutation in the translation initiation codon of the pre-pro-vasopressin-neurophysin II gene: cosegregation with morphological abnormalities and clinical symptoms in autosomal dominant neurohypo-physeal diabetes insipidus. J Clin Endocrinol Metab 81: 192-198.
21. Hashida T, Yamada M, Hashimoto K, Satoh T, Okada S, Shibusawa N, Ishizuka T, Mori M (2006) Loss of consciousness and hypokalemia in an elderly man with a mutation of the thiazide-sensitive Na-Cl cotransporter gene. Endocr J 53: 859-863.