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Vol. 11, No. 4, 2006
Issue release date: June 2006
Section title: Original Paper
Audiol Neurotol 2006;11:242–248
(DOI:10.1159/000093110)

Neurotological and Neuroanatomical Changes in the Connexin-26-Related HID/KID Syndrome

Todt I. · Hennies H.C. · Küster W. · Smolle J. · Rademacher G. · Mutze S. · Basta D. · Eisenschenk A. · Ernst A.
Departments of aOtolaryngology and bRadiology at UKB, Hospital of the University of Berlin (Charité Medical School), cDepartment of Molecular Genetics and Gene Mapping, Max Delbrück Center for Molecular Medicine, Berlin, and dDepartment of Dermatology, Tomesa Clinic, Bad Salzschlirf, Germany; eDepartment of Dermatology, University of Graz, Graz, Austria

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Article / Publication Details

First-Page Preview
Abstract of Original Paper

Received: 9/27/2004
Accepted: 2/20/2006
Published online: 6/12/2006

Number of Print Pages: 7
Number of Figures: 4
Number of Tables: 1

ISSN: 1420-3030 (Print)
eISSN: 1421-9700 (Online)

For additional information: http://www.karger.com/AUD

Abstract

The phenotype of the HID (hystrix-like ichthyosis, deafness)/KID (keratitis, ichthyosis, deafness) syndrome is primarily characterized by skin changes. However, the connexin 26 (Cx 26) autosomal dominant mutation underlying this syndrome is of special neurotological interest. In the present paper, the clinical pattern, audiovestibular and neuroimaging findings and the detailed genetic analysis of 4 patients with identical HID/KID-associated mutation D50N of Cx 26 are reported. The audiological test results demonstrated profound sensorineural hearing loss in all of the patients. Neurotological testing revealed inconsistent abnormalities in dynamic posturography (sensory organization test), but the vestibular ocular reflex upon caloric irrigation was normal in all patients. Vestibular-evoked myogenic potential testing for otolith function (saccule) showed a regular response in 1 patient and pathologic responses in 3 patients, while subjective haptic vertical (utricular function) testing was normal in all of the patients. CCT showed an extended (in length), but very thin (in diameter) bony lining between the basal portion of the internal auditory canal and the vestibule in the 3 scanned patients. Our study provides evidence for functionally intact semicircular canals and normal utricular function in subjects with the autosomal dominant D50N mutation of Cx 26, in contrast to saccular function which was generally compromised and hearing loss which was profound.


  

Author Contacts

Prof. Arne Ernst
Department of Otolaryngology at UKB, Hospital of the University of Berlin (Charité)
Warener Strasse 7
DE–12683 Berlin (Germany)
Tel. +49 30 5681 2901, Fax +49 30 5681 2903, E-Mail ArneborgE@ukb.de

  

Article Information

Received: September 27, 2004
Accepted after revision: February 20, 2006
Published online: May 4, 2006
Number of Print Pages : 7
Number of Figures : 4, Number of Tables : 1, Number of References : 45

  

Publication Details

Audiology and Neurotology (Basic Science and Clinical Research in the Auditory and Vestibulary Systems and Diseases of the Ear)

Vol. 11, No. 4, Year 2006 (Cover Date: June 2006)

Journal Editor: Harris, J.P. (San Diego, Calif.)
ISSN: 1420–3030 (print), 1421–9700 (Online)

For additional information: http://www.karger.com/AUD


Article / Publication Details

First-Page Preview
Abstract of Original Paper

Received: 9/27/2004
Accepted: 2/20/2006
Published online: 6/12/2006

Number of Print Pages: 7
Number of Figures: 4
Number of Tables: 1

ISSN: 1420-3030 (Print)
eISSN: 1421-9700 (Online)

For additional information: http://www.karger.com/AUD


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