听力损失的遗传学

文献信息

中文摘要

自1995年以来，人类遗传学的进展已阐明了许多听力损失的病因。目前，已鉴定出超过150个基因与非综合征性感音神经性听力损失有关，另有200多个基因与综合征型相关（综述见遗传性听力损失主页，https://hereditaryhearingloss.org）。与渐进性成人起病型相比，先天性听力损失的遗传流行病学了解得更为清楚。据估计，四分之三的早发性听力损失具有遗传起源，其余病因则为获得性（产前巨细胞病毒感染、脑膜炎、声音创伤、颞骨损伤）。本文是对遗传性听力损失主要病因的更新。

英文摘要

Since 1995, advancements in human genetics have elucidated many of the causes of hearing loss. Currently, over 150 genes are identified as responsible for nonsyndromic sensorineural hearing loss, and more than 200 are linked to syndromic forms (for review, see Hereditary Hearing Loss Homepage, https://hereditaryhearingloss.org). Genetic epidemiology is better understood for congenital hearing loss than for progressive adult-onset forms. It is estimated that three-quarters of early-onset hearing loss has a genetic origin, the remaining causes being acquired (prenatal cytomegalovirus infection, meningitis, sound trauma, temporal bone injuries). This article is an update of the main etiologies in genetic hearing loss.