PMID: 9193215Jun 1, 1997Paper

Inherited nonsyndromic hearing loss. An audiovestibular study in a large family with autosomal dominant progressive hearing loss related to DFNA2

Archives of Otolaryngology--head & Neck Surgery
H MarresC W Cremers

Abstract

To study nonsyndromic progressive sensorineural hearing loss (SNHL) with significant linkage to the DFNA2 locus on chromosome 1p in a Dutch kindred. A 6-generation family with 194 family members was studied. Of the presumably affected persons, 43 were examined in detail to obtain audiograms and 37 underwent vestibulo-ocular examination. Regression analysis showed significant and equal linear progression in SNHL with age (by about 1 dB per year) at all frequencies. Offset values were close to zero at the low frequencies (0.25, 0.5, and 1 kHz) but increased systematically with the frequency. It is likely that they represent congenital high-frequency SNHL: about 15 dB at 2 kHz, 30 dB at 4 kHz, and 50 dB at 8 kHz. Bilateral caloric weakness was not observed. A significant finding was that 25% to 35% (depending on the exclusion criteria) of the patients showed an increased vestibulo-ocular reflex (hyperreactivity) as measured by rotatory responses. Forty-one patients showed significant linkage to the 1p locus. Including the present family, 4 families have been reported to show linkage to chromosome 1p. Statistical analysis of the audiological data shows a progression of 1 dB per octave per year in this type of progressive SNHL.

Citations

Nov 22, 2007·Human Genetics·Angeles MencíaMiguel Angel Moreno-Pelayo
Feb 15, 2013·The Journal of Biological Chemistry·Guillermo SpitzmaulThomas J Jentsch
Jul 13, 2000·British Journal of Audiology·P Van HauweG Van Camp
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
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
Oct 28, 2004·The Journal of Molecular Diagnostics : JMD·Iris Schrijver
Mar 28, 2002·The Annals of Otology, Rhinology, and Laryngology·Els M R De LeenheerCor W Cremers
May 19, 2011·The Annals of Otology, Rhinology, and Laryngology·Anne-Martine R de HeerCor W R J Cremers
Jun 25, 2009·The Annals of Otology, Rhinology, and Laryngology·Anne-Martine R de HeerCor W R J Cremers
May 26, 2009·The Annals of Otology, Rhinology, and Laryngology·Anne-Martine R de HeerCor W R J Cremers
Sep 9, 2004·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
Jul 2, 2003·The Annals of Otology, Rhinology, and Laryngology·Ronald J E PenningsCor W R J Cremers
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
Sep 10, 2005·Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology·Anne M L C BischoffCor W R J Cremers

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