Referenced in: none

Automatically associated channels: Kir2.3 , Kv7.4 , Slo1

Title: Longitudinal and cross-sectional phenotype analysis in a new, large Dutch DFNA2/KCNQ4 family.

Authors: Els M R De Leenheer, Patrick L M Huygen, Paul J Coucke, Ronald J C Admiraal, G Van Camp, Cor W Cremers

Journal, date & volume: Ann. Otol. Rhinol. Laryngol., 2002 Mar , 111, 267-74

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/11915881

Abstract
We analyzed hearing thresholds, speech recognition scores, and vestibular responses in 32 affected persons in a large family with DFNA2/KCNQ4-related hearing impairment caused by a W276S missense mutation. Linear regression analysis of individual longitudinal data revealed significant threshold progression (1 dB/y) and offset (at age zero). The mean offset thresholds were 5, 21, 40, 39, 31, and 51 dB hearing level (HL) at 0.25, 0.5, 1, 2, 4, and 8 kHz, respectively. Cross-sectional analysis of last-visit thresholds against age produced less-steep slopes and higher offset thresholds. Nonlinear regression analysis of last-visit phoneme recognition scores against age in 25 cases showed that speech recognition did not deteriorate before the third decade. A hyperactive vestibuloocular reflex was found in 3 of 11 cases: 2 persons were especially susceptible to motion sickness. Persons with this KCNQ4 mutation showed congenital, progressive high-frequency impairment without substantial loss of speech recognition during the first decades of life.