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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.

Original publication

DOI

10.1136/archdischild-2014-306099

Type

Journal article

Journal

Arch Dis Child

Publication Date

03/2015

Volume

100

Pages

271 - 278

Keywords

Audiology, Deafness, Dysmorphology, Genetics, Syndrome, Audiometry, Child, Genetic Testing, Hearing Loss, Sensorineural, Humans, Mutation