title: Genotype phenotype correlations for hearing impairment: approaches to management.
abstract: Hearing impairment is an extremely heterogeneous disorder, with both environmental as well as genetic causes. This review describes the known genes involved in non-syndromic hearing impairment and their genotype-phenotype correlations where possible. Furthermore, some of the more frequent syndromic forms of hearing impairment are described, in particular where they overlap with the non-syndromic forms. Given the heterogeneity of the disorder, together with the indistinguishable phenotypes for many of the genes, it is suggested that testing for mutations is performed using massive parallel sequencing techniques, either by a large targeted set of genes or by an exome wide analysis.
authors.affiliation: Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands; Institute for Genetic and Metabolic Disease, Radboud University Medical Center, Nijmegen, the Netherlands.
authors.forename: L H
authors.initials: LH
authors.lastname: Hoefsloot
authors.forename: I
authors.initials: I
authors.lastname: Feenstra
authors.forename: H P M
authors.initials: HP
authors.lastname: Kunst
authors.forename: H
authors.initials: H
authors.lastname: Kremer
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics*; D001299:Audiometry; D056726:Genetic Association Studies; D056426:Genetic Loci; D005838:Genotype; D034381:Hearing Loss / Q000145:classification / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D007473:Ion Channels / Q000235:genetics*; D009154:Mutation; D010641:Phenotype
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D007473:Ion Channels
keywords: diagnostic testing; genetic; genotype; non-syndromic hearing impairment; phenotype