Linkage of infantile Bartter syndrome with sensorineural deafness to chromosome 1p

American Journal of Human Genetics

Volumn 62, Issue 2, 1998, Pages 355-361

  Brennan, Theresa M H ^a   Landau, Daniel ^b   Shalev, Hana ^b   Lamb, Fred ^a   Schutte, Brian C ^a   Walder, Roxanne Y ^a   Mark, Allyn L ^a   Carmi, Rivka ^b   Sheffield, Val C ^a,b  

^a UNIVERSITY OF IOWA   (United States)

^b BEN GURION UNIVERSITY OF THE NEGEV   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

ALDOSTERONE; ANTIPORTER; CHLORIDE; CHLORIDE CHANNEL; DNA; POTASSIUM; RENIN;

ARAB; ARTICLE; BARTTER SYNDROME; CHROMOSOME 1P; FEMALE; GENETIC LINKAGE; HUMAN; HYPERALDOSTERONISM; HYPERRENINEMIA; HYPOCHLOREMIA; HYPOKALEMIA; MAJOR CLINICAL STUDY; MALE; METABOLIC ALKALOSIS; PEDIGREE ANALYSIS; PERCEPTION DEAFNESS; PRIORITY JOURNAL;

EID: 0031937693     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/301708     Document Type: Article

References (33)

1. Bartter FC, Pronove P, Gill JR, MacCardle RC (1962) Hyperplasia of the juxtaglomular complex with hyperaldosteronism and hypokalemic alkalosis. Am J Med 33:811-828
2. Bassam BJ, Caetano-Anolles G, Gresshoff PM (1991) Fast and sensitive silver staining of DNA in polyacrylamide gels. Anal Biochem 196:80-83
3. Brandt S, Jentsch TJ (1995) CIC-6 and C1C-7 are two novel broadly expressed members of the CLC chloride channel family. FEBS Lett 377:15-20
4. Carmi R, Rokhlina T, Kwitek-Black AE, Elbedour K, Nishimura D, Stone EM, Sheffield VC (1995) Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15. Hum Mol Genet 4:9-13
5. Chodynicki S, Kostrzewska A (1974) Effects of furosemide and ethacrynic acid on endolymph potential in guinea pig. Otolaryngol Pol 28:5-8
6. Clive DM (1995) Bartter's syndrome: the unsolved puzzle. Am J Kidney Dis 25:813-823
7. Cox DR, Burmeister M, Price ER, Kim S, Myers RM (1990) Radiation hybrid mapping: a somatic cell genetic method for construction of high-resolution maps of mammalian chromosomes. Science 250:245-250
8. Dib C, Fauré S, Fizames C, Samson D, Drouot N, Vignal A, Millasseau P, et al (1996) A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 380:152-154
9. Graham RM, Bloch KD, Delaney VB, Bourke E, Seidman JG (1986) Bartter's syndrome and the atrial natriuretic factor gene. Hypertension 8:549-551
10. Higaki J, Ogihara T (1992) Renin gene analysis of familial Bartter's syndrome. Nippon Rinsho 50:3106-3109
11. Ikeda K, Morizono T (1989) Electrochemical profiles for monovalent ions in the stria vascularis: cellular model of ion transport mechanisms. Hear Res 39:279-286
12. Kieferle S, Fong P, Bens M, Vandewalle A, Jentsch T (1994) Two highly homologous members of the ClC chloride channel family in both rat and human kidney. Proc Natl Acad Sci USA 91:6943-6947
13. Kockerling A, Reinalter SC, Seyberth HJ (1996) Impaired response to furosemide in hyperprostaglandin E syndrome: evidence for a tubular defect in the loop of Henle. J Pediatr 129:519-528
14. Landau D, Shalev H, Ohaly M, Carmi R (1995) Infantile variant of Bartter syndrome and sensorineural deafness: a new autosomal recessive disorder. Am J Med Genet 59:454-459
15. Lloyd-Mostyn RH, Lord IJ (1971) Ototoxicity of intravenous furosemide. Lancet 2:1156
16. + antiporter: localization to chromosome 1 by in situ hybridization. Cytogenet Cell Genet 48:6-8
17. Miller SA, Dykes DD, Polesky HF (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16:1215
18. Rodrigues PR, van Wersch J (1983) Inheritance of Bartter Syndrome. Am J Med Genet 15:79-84
19. + antiporter. Cell 56:271-280
20. Seifter JL, Aronson PS (1986) Properties and physiologic roles of the plasma membrane sodium-hydrogen exchanger. J Clin Invest 78:859-863
21. Seyberth HJ, Kockerling A, Soergel M (1996) Hypokalemic tubular disorders: the hyperprostaglandin E syndrome and Gitelman-Bartter syndrome. In: Davidson AM, Cameron JS, Gruenfeld JP, Kerr DNS, Ritz E, Winearls CQ (eds) Oxford textbook of clinical nephrology, 2d ed. Oxford University Press, London, pp 1085-1094
22. Seyberth HW, Rascher W, Schweer H, Kuhl PG, Mehls O, Scharer K (1985) Congenital hypokalemia with hypercalciuria in preterm infants: a hyperprostaglandinuric syndrome different from Bartter syndrome. J Pediatr 107: 694-701
23. Sheffield VC, Beck JS, Kwitek AE, Sandstrom DW, Stone EM (1993) The sensitivity of single-strand conformation polymorphism analysis for the detection of single base substitution. Genomics 16:325-332
24. Sheffield VC, Carmi R, Kwitek-Black A, Rokhlina T, Nishimura D, Duyk GM, Elbedour K, et al (1994) Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping. Hum Mol Genet 3:331-335
25. Simon DB, Bindra RS, Mansfield TA, Nelson-Williams C, Mendonca E, Stone R, Schurman S, et al (1997) Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III. Nat Genet 17:171-178
26. Simon DB, Karet FE, Hamdan JM, DiPietro A, Sanjad SA, Lifton RP (1996a) Bartter's syndrome, hypokalemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2C1 cotransporter NKCC2. Nat Genet 3:183-188
27. + channel, ROMK. Nat Genet 14:152-156
28. - cotransporter. Nat Genet 12:24-30
29. Steel KP, Brown SDM (1994) Genes and deafness. Trends Genet 10:428-435
30. Stein JH (1985) The pathogenic spectrum of Bartter's syndrome. Kidney Int 28:85-93
31. Takeuchi Y, Uchida S, Marumo F, Sasaki S (1995) Cloning, tissue distribution and intrarenal localization of ClC chloride channels in human kidney. Kidney Int 48:1497-1503
32. Vargish T, Benjamin R, Shenkman L (1970) Deafness from furosemide. Ann Intern Med 72:761
33. Yoshida H, Kakuchi J, Yoshikawa N, Saruta T, Inagami T, Phillips JA III, Ichikawa I (1994) Angiotensin II type I receptor gene abnormality in a patient with Bartter's syndrome. Kidney Int 46:1505-1509