PMID: 11915881Mar 28, 2002Paper

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

The Annals of Otology, Rhinology, and Laryngology
Els M R De LeenheerC W Cremers

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.

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Citations

May 24, 2006·Journal of the Association for Research in Otolaryngology : JARO·Rutger F PlantingaCor W R J Cremers
Jul 26, 2011·Journal of the Association for Research in Otolaryngology : JARO·Nicole J D WeegerinkHenricus P M Kunst
Feb 22, 2012·Journal of the Association for Research in Otolaryngology : JARO·Sebastian P SchravenMarlies Knipper
Aug 4, 2011·Hearing Research·N J D WeegerinkH P M Kunst
Sep 7, 2011·Hearing Research·N J D WeegerinkH P M Kunst
Jan 12, 2010·Hearing Research·Takashi KimitsukiShizuo Komune
Jun 12, 2013·Journal of Cellular and Molecular Medicine·Yanhong GaoLiping Nie
Jan 20, 2005·International Journal of Pediatric Otorhinolaryngology·Regie Lyn P SantosCor W R J Cremers
Jan 18, 2014·Audiology & Neuro-otology·E van BeelenH P M Kunst
Jun 15, 2007·The Annals of Otology, Rhinology, and Laryngology·Robert J PauwCor W R J Cremers
May 26, 2009·The Annals of Otology, Rhinology, and Laryngology·Anne-Martine R de HeerCor W R J Cremers
May 19, 2011·The Annals of Otology, Rhinology, and Laryngology·Anne-Martine R de HeerCor W R J Cremers
Jun 26, 2014·The Annals of Otology, Rhinology, and Laryngology·Anne M M OonkRonald J E Pennings
Jun 25, 2009·The Annals of Otology, Rhinology, and Laryngology·Anne-Martine R de HeerCor W R J Cremers
Jun 1, 2016·The Annals of Otology, Rhinology, and Laryngology·Nicole J D WeegerinkIngeborg J M Dhooge
Feb 9, 2005·Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology·Vedat TopsakalCor W R J Cremers
Feb 1, 2007·Audiology & Neuro-otology·Robert J PauwCor W R J Cremers
Nov 22, 2011·Nature Neuroscience·Matthias HeidenreichGary R Lewin
May 14, 2005·Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology·W I M VerhagenB G M van Engelen
Jan 25, 2003·Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology·Ronald J E PenningsCor W R J Cremers
Sep 1, 2017·Journal of Neurophysiology·Choongheon LeeTimothy A Jones
Feb 15, 2013·The Journal of Biological Chemistry·Guillermo SpitzmaulThomas J Jentsch
Oct 23, 2008·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Michael S HildebrandRichard J H Smith

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