Influence of gain of function epithelial chloride channel ClC-Kb mutation on hearing thresholds.

  • Andreas Frey
  • Angelika Lampert
  • Siegfried Waldegger
  • Nikola Jeck
  • Petra Waldegger
  • Ferruh Artunc
  • Guiscard Seebohm
  • Undine E Lang
  • Susan Kupka
  • Markus Pfister
  • Julia Hoppe
  • Christian Gerloff
  • Elke Schaeffeler
  • Matthias Schwab
  • Florian Lang

Beteiligte Einrichtungen

Abstract

Hearing depends on functional ClC-K-type chloride channels composed of barttin with ClC-Ka or ClC-Kb. Loss-of-function mutations of the barttin gene BSND or of both, the ClC-Ka gene CLNKA and the ClC-Kb gene CLNKB lead to congenital deafness and renal salt wasting. Recently, we identified the gain-of-function mutation ClC-Kb(T481S) which is associated with increased blood pressure. To explore the impact of ClC-Kb(T481S) on hearing, healthy volunteers (n=329) and individuals suffering from tinnitus (n=246) volunteered for hearing tests (n=348) and genetic analysis (n=575). 19.1% of the individuals were heterozygote (ClC-Kb(T481S)/ClC-Kb) and 1.7% homozygote carriers. Pure tone average hearing threshold (PTAt) for air conduction was significantly (p30 dB (p

Bibliografische Daten

OriginalspracheDeutsch
Aufsatznummer1-2
ISSN0378-5955
StatusVeröffentlicht - 2006
pubmed 16549283