[Hereditary hearing loss: new diagnostic possibilities].
Mutations in many different genes can result in hearing loss. Using different molecular genetic methods, the disease-causing gene mutations can often be identified or at least localised to defined regions of the genome. These new diagnostic possibilities result from the localisation and identification of a number of hearing-loss genes in the last five years. Diagnostic investigations should always be accompanied by a genetic counselling of the family. In addition, the isolation thus far of 11 genes mutated in autosomal dominant inherited hearing loss, as well as of 6 genes mutated in autosomal recessive inherited hearing loss, has contributed to a better understanding of the molecular pathology of hearing loss in general. However, we are only beginning to see the whole picture, as an estimated 50 to 80 hearing loss genes remain to be discovered.
Hergersberg
M
M
Institut für Medizinische Genetik, Universität Zürich. hergie@medgen.unizh.ch
Weigell-Weber
M
M
D002874:Chromosome Mapping; D003638:Deafness / Q000175:diagnosis / Q000235:genetics*; D006311:Hearing Disorders / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D009154:Mutation