Artikel
Localisation of a novel autosomal dominant non-syndromic hearing impairment on chromosome 20
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Veröffentlicht: | 22. Juli 2009 |
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Gliederung
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Introduction: Hearing loss is one of the most frequent sensory deficits in human. A considerable part is based on genetic defects eg mutations in functional relevant genes of the inner ear. Finding the relevant genes can be greatly facilitated by the investigation of affected families with hearing loss.
Methods: Over the last three years we studied one family with hereditary hearing loss. To identify correct phenotypes it is vital to take precise case histories and perform appropriate audiometric measures. For DNA assays we extracted blood or used the patients' oral mucosa swipes.
Results: In the family comprising three generations we were able to identify a dominant autosomal inherited sensorineural, progressive non-syndromic form of hearing impairment in 22 out of 33 family members. With advancing age these patients demonstrated the typical progressive hearing loss of 2 kHz. By genechip whole genome analysis a sigificant co-segregation of the familial hearing loss to chromosome 20 (D20S480) was identified.
Conclusions: Currently, we are searching potential candidate genes in this area and perform mutation analysis in order to elucidate the underlying pathomechanism.