Non-syndromic autosomal dominant progressive non-specific mid-frequency sensorineural hearing impairment with childhood to late adolescence onset (DFNA21)
| Autor: | S. Velde, Alice Krebsová, C.W.R.J. Cremers, André Reis, G. Duijnhoven, F. Cremers, Patrick L. M. Huygen, Henricus P. M. Kunst, Henri A. M. Marres |
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| Rok vydání: | 2000 |
| Předmět: |
Adult
Male medicine.medical_specialty Identificatie van genen betrokken bij erfelijke doofheid Genetic Linkage Hearing Loss Sensorineural Erfelijk gehoorverlies Locus (genetics) Late onset Audiology Variable Expression Genetics of hearing Audiometry Genetic linkage Linear regression medicine Humans Age of Onset Child Genes Dominant Absolute threshold of hearing business.industry Identification of genes involved in inherited deafness Autosomal dominant trait Regression analysis Middle Aged Pedigree Cross-Sectional Studies Otorhinolaryngology Regression Analysis Chromosomes Human Pair 6 Female Tumorimmunology business |
| Zdroj: | Clinical Otolaryngology, 25, 45-54 Clinical Otolaryngology, 25, pp. 45-54 |
| ISSN: | 1365-2273 0307-7772 1749-4478 |
| Popis: | An autosomal dominant trait of progressive, non-syndromic, non-specific mid-frequency sensorineural hearing impairment was identified in a Dutch family. Many affected family members (n = 21) were identified, among whom seven out of nine relatives aged < 30 years do not show pure mid-frequency hearing impairment, which suggests variable expression. Regression analysis was used to evaluate the age-related hearing threshold data in a cross-sectional analysis in 24 affected patients and in a longitudinal analysis in five of these. At all frequencies, progression in hearing impairment (i.e. the regression coefficient) was significant and fairly similar: the pooled value was about 1.0 dB/y. There was no significant (i.e. not =0 dB) offset threshold (i.e. Y intercept at age 0) found at any frequency. The regression lines could be pooled for the low frequencies (0.25-0.5 kHz) and the mid/high frequencies (1-8 kHz) and this produced apparent onset ages of about 3 and 4 years and annual threshold increases of 0.75 and 1.1 dB/y, respectively. In most patients there is a relatively late onset age (maximum in the range of at least 25-45 years). However, based on the longitudinal analysis of a patient from the age of 4 years onwards in some patients sensorineural hearing impairment might be congenital/prelingual. Oculo-vestibular function was found to be normal. Results from linkage studies tentatively position the underlying gene defect telomeric to the repositioned DFNA13 locus at chromosome 6p21-22. |
| Databáze: | OpenAIRE |
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