[Clinical implications of molecular genetic research in otorhinolaryngology].
Molecular-genetic research in Otolaryngology has seen a rapid advancement during the last ten years, especially in the fields of otology and head and neck tumors. The results of this basic research have now started to be implemented in the clinic. In otology the understanding of auditive function has dramatically improved. The syndromic and non-syndromic forms of hereditary hearing impairment can be subdivided into their underlying genetic defects, as more and more genes are identified. Diagnostic of syndromic hearing loss has been improved and can be done earlier. But the molecular-genetic analysis is still time-consuming and difficult. Currently, in our clinic, only patients with suspected Pendred-syndrome, representing the most frequent syndrome with hearing impairment, undergo a routine search for mutation detection in the corresponding gene SLC26A4. A multitude of genes and mutations are seen in the non-syndromic forms of hereditary hearing impairment. The gene gap-junction-protein beta2, encoding connexin 26, is encountered most frequently. Its prevalence in Switzerland is high with about 20% in the non-syndromic group. A molecular-genetic analysis of connexin 26 is offered in cases of congenital hearing loss. Another analysis, which has been implemented in the clinic, is the sequencing of Wolfram-syndrome gene 1 in familial low-frequency hearing loss. This gene seems to be involved in the majority of families with this type of hearing loss. Gene therapy for hearing loss is currently not an option in the clinical field. The different steps in carcinogenesis of head and neck cancer have further been elucidated by molecular-genetic research. Clinical applications are the establishment of risk-profiles for tumor-development and defining prognostic markers as well as the development of new treatment strategies based on genetic therapy.
D000328:Adult; D002648:Child; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics; D036281:Genetic Research; D015316:Genetic Therapy; D006258:Head and Neck Neoplasms / Q000209:etiology / Q000235:genetics; D006311:Hearing Disorders / Q000151:congenital / Q000235:genetics* / Q000628:therapy; D006801:Humans; D007231:Infant, Newborn; D009154:Mutation; D010038:Otorhinolaryngologic Diseases / Q000209:etiology / Q000235:genetics* / Q000628:therapy; D010641:Phenotype; D011379:Prognosis; D012307:Risk Factors; D013577:Syndrome; D014929:Wolfram Syndrome / Q000235:genetics
D017630:Connexins; D000072259:Connexin 26