Parker Michael, Bitner-Glindzicz Maria
Sheffield Clinical Genetics Service, Sheffield Children's Hospital NHS Foundation Trust, Sheffield, South Yorkshire, UK.
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.
Arch Dis Child. 2015 Mar;100(3):271-8. doi: 10.1136/archdischild-2014-306099. Epub 2014 Oct 16.
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.
永久性儿童感音神经性听力损失是发达国家最常见的出生缺陷之一。出于多种原因，确定听力损失的病因很重要，因为这可能对健康监测有重要影响，尤其是对于综合征性病因。非综合征性感音神经性听力损失是一种高度异质性的遗传疾病，这意味着它可能由众多基因中的任何一个引起，不同基因类型之间的表型差异非常小。这以前给基因检测带来了重大挑战。然而，新技术的引入应该能在未来实现更全面的检测，给更多受影响的儿童及其家庭带来巨大益处。
