Characterization of a Splicing Abnormality in Gitelman Syndrome

American Journal of Kidney Diseases

Volumn 51, Issue 6, 2008, Pages 1077-1078

  Iida, Keiji ^a   Nozu, Kandai ^a   Takahashi, Yutaka ^a   Okimura, Yasuhiko ^a   Kaji, Hidesuke ^b   Matsuo, Masafumi ^a   Chihara, Kazuo ^a  

^a KOBE UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b UNIVERSITY OF HYOGO   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

SODIUM CHLORIDE COTRANSPORTER;

DNA SPLICING; GENE MUTATION; GITELMAN SYNDROME; HYPOKALEMIA; HYPOMAGNESEMIA; INTRON; LETTER; METABOLIC ALKALOSIS; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; SEQUENCE ANALYSIS;

GITELMAN SYNDROME; HUMANS; RNA SPLICING;

EID: 43849083544     PISSN: 02726386     EISSN: None     Source Type: Journal    
DOI: 10.1053/j.ajkd.2008.03.031     Document Type: Letter

References (7)

1. Gitelman H.J., Graham J.B., and Welt L.G. A new familial disorder characterized by hypokalemia and hypomagnesemia. Trans Assoc Am Physicians 79 (1966) 221-235
2. Simon D.B., Nelson-Williams C., Bia M.J., et al. Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter. Nat Genet 12 (1996) 24-30
3. Iida K., Hanafusa M., Maekawa I., et al. A novel splice site mutation of the Thiazide-Sensitive Na-Cl co-transporter gene in a Japanese patient with Gitelman's syndrome. Clin Nephrol 62 (2004) 180-184
4. Krawczak M., Reiss J., and Cooper D.N. The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences. Hum Genet 90 (1992) 41-54
5. Obermüller N., Bernstein P., Velázquez H., et al. Expression of the thiazide-sensitive Na-Cl cotransporter in rat and human kidney. Am J Physiol 69 (1995) F900-F910
6. Kaito H., Nozu K., Fu X.J., et al. 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 (2007) 502-505
7. Riveira-Munoz E., Chang Q., Godefroid N., et al. Transcriptional and functional analyses of SLC12A3 mutations: new clues for the pathogenesis of Gitelman syndrome. J Am Soc Nephrol 18 (2007) 1271-1283