title: Genetic investigations in childhood deafness.
abstract: Permanent childhood sensorineural hearing loss, is one of the most common birth defects in developed countries. It is important to identify the aetiology of hearing loss for many reasons, as there may be important health surveillance implications particularly with syndromic causes. Non-syndromic sensorineural hearing loss is a highly heterogeneous genetic condition, meaning that it may be caused by any one of numerous genes, with very few phenotypic distinctions between the different genetic types. This has previously presented significant challenges for genetic testing. However, the introduction of new technologies should enable more comprehensive testing in the future, bringing significant benefits to more affected children and their families.
authors.affiliation: Sheffield Clinical Genetics Service, Sheffield Children's Hospital NHS Foundation Trust, Sheffield, South Yorkshire, UK.
authors.forename: Michael
authors.initials: M
authors.lastname: Parker
authors.affiliation: UCL Institute of Child Health, Genetics and Genomic Medicine Programme, London, UK North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
authors.forename: Maria
authors.initials: M
authors.lastname: Bitner-Glindzicz
mesh_terms: D001299:Audiometry; D002648:Child; D005820:Genetic Testing / Q000379:methods*; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D009154:Mutation
keywords: Audiology; Deafness; Dysmorphology; Genetics; Syndrome