Mild and Variable Audiometric and Vestibular Features in a Third DFNA15 Family with a Novel Mutation in POU4F3
| Autor: | Patrick L. M. Huygen, Hannie Kremer, Cor W. R. J. Cremers, Rob W.J. Collin, Anne-Martine R. de Heer |
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| Rok vydání: | 2009 |
| Předmět: |
Adult
Male Heterozygote medicine.medical_specialty Genetics and epigenetic pathways of disease [NCMLS 6] Adolescent Hearing loss Hearing Loss Sensorineural Presbycusis Neuroinformatics [DCN 3] Audiology Genomic disorders and inherited multi-system disorders [IGMD 3] Vestibular labyrinth otorhinolaryngologic diseases medicine Humans Child Aged Netherlands Homeodomain Proteins Vestibular system Pure tone business.industry Age Factors General Medicine Audiogram Vestibular Function Tests medicine.disease Pedigree Transcription Factor Brn-3C Otorhinolaryngology Mutation Mutation (genetic algorithm) Audiometry Pure-Tone Female medicine.symptom business Functional Neurogenomics [DCN 2] Novel mutation |
| Zdroj: | Annals of Otology, Rhinology and Laryngology, 118, 4, pp. 313-20 Annals of Otology, Rhinology and Laryngology, 118, 313-20 |
| ISSN: | 1943-572X 0003-4894 |
| DOI: | 10.1177/000348940911800413 |
| Popis: | Objectives: Cochleovestibular characteristics were investigated in a Dutch DFNA15 family with a novel POU4F3 mutation, L223P Methods: A 4-generation pedigree was constructed of the Dutch family with the novel L223P POU4F3 mutation. Pure tone audiometric data were collected and analyzed cross-sectionally in mutation carriers. Age-related typical audiograms were derived. Vestibular examination was performed in most of the mutation carriers. The results were compared to those obtained from previously identified 884del8 and L289F POU4F3 mutation carriers. Results: A novel mutation (L223P) in POU4F3 segregated with hearing impairment in the present family. Audiometric analysis generally showed an early-adult to midlife onset of hearing impairment. High-frequency hearing impairment was observed most frequently. Age-related typical audiograms showed a down-sloping configuration at ages of more than 30 years, with the fastest rate of progression at the high frequencies. Vestibular function tests revealed hypofunction of the vestibular labyrinth in 2 mutation carriers (not statistically significant). Conclusions: The clinical features in the present family with a POU4F3 mutation were fairly similar to those in the 2 previously described DFNA15 families, but the level of hearing impairment was milder, and there was no substantial vestibular dysfunction. |
| Databáze: | OpenAIRE |
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