Audiometric, Vestibular, and Genetic Aspects of a DFNA9 Family with a G88E COCH Mutation
| Autor: | Martijn H. Kemperman, Els De Leenheer, Cynthia C. Morton, Frans P.M. Cremers, Patrick L. M. Huygen, Hannie Kremer, Gerard van Duijnhoven, Nahid G. Robertson, Cor W. R. J. Cremers |
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| Rok vydání: | 2005 |
| Předmět: |
Adult
Male medicine.medical_specialty Genetics and epigenetic pathways of disease [NCMLS 6] Cochlear Diseases DNA Mutational Analysis Single-nucleotide polymorphism Deafness Audiology Genetic analysis Perception and Action [DCN 1] otorhinolaryngologic diseases medicine Humans Neurosensory disorders [UMCN 3.3] Family Polymorphism Single-Stranded Conformational Aged Chromosomes Human Pair 14 Vestibular system Extracellular Matrix Proteins Vestibular areflexia business.industry Haplotype Proteins Auditory Threshold Middle Aged Sensory Systems Pedigree Phenotype Haplotypes Otorhinolaryngology Mutation Mutation (genetic algorithm) Audiometry Pure-Tone Microsatellite Female Neurology (clinical) Age of onset business Sequence Analysis Functional Neurogenomics [DCN 2] Microsatellite Repeats |
| Zdroj: | Otology & Neurotology, 26, 5, pp. 926-33 Otology & Neurotology, 26, 926-33 |
| ISSN: | 1531-7129 |
| Popis: | Contains fulltext : 47623.pdf (Publisher’s version ) (Closed access) OBJECTIVES: To perform genetic analysis and to analyze cochleovestibular impairment features in a newly identified Dutch family with nonsyndromic autosomal dominant hearing impairment (DFNA9). STUDY DESIGN: Genetic analysis was performed using microsatellite markers and single nucleotide polymorphisms. Audiometric data were collected and analyzed longitudinally. Results were compared with those obtained in previously identified P51S COCH mutation carriers (n = 74). Special attention was also given to a comparison of age-related features such as progressive hearing loss and vestibular impairment. SETTING: Tertiary referral center. PATIENTS: G88E COCH mutation carriers from a Dutch family. MAIN OUTCOME MEASURES: The study of clinical features of a DFNA9 family carrying a G88E COCH mutation and to compare this to the symptoms of those carrying a P51S/COCH mutation. RESULTS: Pure-tone thresholds, phoneme recognition scores, and vestibular responses of the G88E mutation carriers were essentially similar to those previously established in the P51S mutation carriers. Hearing started to deteriorate in G88E mutation carriers from age 46 to 49 years and onward, whereas deterioration of vestibular function started from approximately age 46 years. In the P51S mutation carriers, vestibular impairment started earlier, at approximately age 34 years. However, the difference in age of onset with the G88E mutation carriers was not significant. Remarkably, the proportion of patients who developed complete vestibular areflexia within the age range of 40 to 56 years was significantly lower for the G88E mutation carriers than for the P51S mutation carriers. CONCLUSION: Apart from a significantly lower frequency of vestibular areflexia between the ages of 40 and 56 years, there are no phenotypic differences between carriers of the G88E and P51S mutations in the COCH gene. |
| Databáze: | OpenAIRE |
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