A Dutch family with progressive sensorineural hearing impairment linked to the DFNA2 region
| Autor: | Paul Coucke, Patrick L. M. Huygen, P. van Hauwe, R.J.H. Ensink, C.W.R.J. Cremers, G. Van Camp |
|---|---|
| Rok vydání: | 2000 |
| Předmět: |
Adult
Male medicine.medical_specialty Adolescent Genetic Linkage Hearing loss Hearing Loss Sensorineural Erfelijk gehoorverlies Chromosome Disorders Audiology Genetics of hearing Audiometry Dna genetics otorhinolaryngologic diseases Humans Medicine Child Aged Genes Dominant Netherlands Aged 80 and over Chromosome Aberrations medicine.diagnostic_test business.industry Progressive sensorineural hearing impairment DNA General Medicine Audiogram Middle Aged Congenital impairment Pedigree Phenotype Otorhinolaryngology Linear Models Head and neck surgery Female medicine.symptom business Lod scores |
| Zdroj: | European Archives of Oto-Rhino-Laryngology, 257, 62-67 European archives of oto-rhino-laryngology European Archives of Oto-Rhino-Laryngology, 257, pp. 62-67 |
| ISSN: | 0937-4477 |
| Popis: | We studied a Dutch family with DFNA2-linked progressive sensorineural hearing impairment (SNHI). Recent audiograms were obtained from 18 of the affected persons (age 7-81 years) and were used in a gene-linkage analysis. Linear regression analysis of the audiograms, using binaural mean thresholds, disclosed on average a descending slope of approximately 10 dB/octave at any age and an annual threshold increase at any frequency of about 0.7 dB/year. There may have been substantial congenital impairment at higher frequencies, but longitudinal analysis of hearing impairment in the youngest case, who was followed from age 5 years, suggested that the most significant changes in hearing may have occurred in the first two decades of life. Linkage analysis was carried out with special attention to the DFNA2 region because hearing trends were very similar to families previously linked to DFNA2. Linkage to DFNA2 was established with maximum lod scores of 4.7 and 3.2 for the flanking markers of the DFNA2 region (D1S432;MYCL1). |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full text from SpringerLink