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Republished: Genetic investigations in childhood deafness
  1. Michael Parker1,
  2. Maria Bitner-Glindzicz2,3
  1. 1Sheffield Clinical Genetics Service, Sheffield Children's Hospital NHS Foundation Trust, Sheffield, South Yorkshire, UK
  2. 2UCL Institute of Child Health, Genetics and Genomic Medicine Programme, London, UK
  3. 3North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK
  1. Correspondence to Dr Michael Parker, Sheffield Clinical Genetics Service, Sheffield Children's Hospital NHS Foundation Trust, Sheffield S10 2TH, UK; michael.parker{at}sch.nhs.uk and Dr Maria Bitner-Glindzick, UCL Institute of Child Health, Genetics and Genomic Medicine Programme, 30 Guilford Street, London WC1N 1EH, UK; maria.bitner{at}ucl.ac.uk

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.

  • Genetics
  • Audiology
  • Deafness
  • Dysmorphology
  • Syndrome

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