PT - JOURNAL ARTICLE AU - Michael Parker AU - Maria Bitner-Glindzicz TI - Genetic investigations in childhood deafness AID - 10.1136/archdischild-2014-306099 DP - 2015 Mar 01 TA - Archives of Disease in Childhood PG - 271--278 VI - 100 IP - 3 4099 - http://adc.bmj.com/content/100/3/271.short 4100 - http://adc.bmj.com/content/100/3/271.full SO - Arch Dis Child2015 Mar 01; 100 AB - 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.