title: Deafness genes and their diagnostic applications.
abstract: Hearing impairment (HI) is clinically and genetically very heterogeneous, and auditory genes are discovered at a very rapid pace. The identification of deafness genes is enabling us to understand the molecular process of hearing, and it offers prospects for DNA testing of HI. However, the routine application of these tests is hampered by the large number of genes involved in HI and by the fact that molecular screening of these genes is often quite expensive and time consuming. An important gene that should be considered in congenital or childhood onset autosomal recessive HI is GJB2 since mutations in this gene account for at least 50% of this type of HI. In the present review, we describe the known deafness genes and we provide an overview of the current, routinely used diagnostic DNA tests.
authors.affiliation: Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.
authors.forename: Kim
authors.initials: K
authors.lastname: Cryns
authors.forename: Guy
authors.initials: G
authors.lastname: Van Camp
mesh_terms: D002869:Chromosome Aberrations; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics; D004252:DNA Mutational Analysis; D003638:Deafness / Q000175:diagnosis* / Q000235:genetics*; D016368:Frameshift Mutation / Q000235:genetics; D005799:Genes, Dominant / Q000235:genetics; D005808:Genes, Recessive / Q000235:genetics; D005820:Genetic Testing; D006801:Humans; D008969:Molecular Sequence Data; D013577:Syndrome
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26