Details

Autor(en) / Beteiligte

• Bockenhauer, Detlef
• Feather, Sally
• Stanescu, Horia C
• Bandulik, Sascha
• Zdebik, Anselm A
• Reichold, Markus
• Tobin, Jonathan
• Lieberer, Evelyn
• Sterner, Christina
• Landoure, Guida
• Arora, Ruchi
• Sirimanna, Tony
• Thompson, Dorothy
• Cross, J. Helen
• van't Hoff, William
• Al Masri, Omar
• Tullus, Kjell
• Yeung, Stella
• Anikster, Yair
• Klootwijk, Enriko
• Hubank, Mike
• Dillon, Michael J
• Heitzmann, Dirk
• Arcos-Burgos, Mauricio
• Knepper, Mark A
• Dobbie, Angus
• Gahl, William A
• Warth, Richard
• Sheridan, Eamonn
• Kleta, Robert

Titel

Epilepsy, Ataxia, Sensorineural Deafness, Tubulopathy, and KCNJ10 Mutations

Ist Teil von

• The New England journal of medicine, 2009-05, Vol.360 (19), p.1960-1970

Ort / Verlag

Waltham, MA: Massachusetts Medical Society

Erscheinungsjahr

2009

Link zum Volltext

Quelle

MEDLINE

Beschreibungen/Notizen

• Whole-genome linkage analysis in children with normotensive hypokalemic metabolic alkalosis, epilepsy, ataxia, sensorineural deafness, and tubulopathy identified a single relevant locus on chromosome 1q23.2 containing KCNJ10, which encodes a potassium channel expressed in the brain, inner ear, and kidney. The findings suggest that KCNJ10 plays an important role in renal salt handling and perhaps also in the maintenance and regulation of blood pressure. Whole-genome linkage analysis in children with normotensive hypokalemic metabolic alkalosis, epilepsy, ataxia, sensorineural deafness, and tubulopathy identified a single relevant locus on chromosome 1q23.2 containing KCNJ10, which encodes a potassium channel expressed in the brain, inner ear, and kidney. The study of molecular defects in rare inherited renal tubular diseases has substantially advanced both our understanding of renal salt and water handling and the management of common disorders such as systemic hypertension. 1 – 7 Two well-known disorders of renal tubular salt handling, Bartter's syndrome and the Gitelman syndrome, are characterized by polyuria and normotensive hypokalemic metabolic alkalosis. We describe five children with similar clinical findings, as well as infantile-onset seizures, ataxia, and sensorineural deafness. We determined the genetic basis of this disease and the pathophysiological mechanism accounting for its seemingly divergent clinical manifestations. Methods Genotyping and Linkage Analysis Genetic studies . . .