Stinckens C, Ensink R, Feenstra L, Fryns J P, Cremers C
Department of Otorhinolaryngology, University Hospitals Leuven, Belgium.
Int J Pediatr Otorhinolaryngol. 1997 Jan 3;38(3):237-45. doi: 10.1016/s0165-5876(96)01444-9.
Sensorineural hearing loss affects approximately 1 in 2 persons at about 80 years of age and 1 in 750 in childhood. The best known forms of hearing loss with an autosomal dominant pattern of inheritance are the syndromic-mediated ones. At present, the non-syndromic autosomal dominant inherited forms can only be distinguished by the shape of the tone-audiogram. Based on gene linkage studies twelve different genotypes for autosomal dominant hereditary non-syndromic forms of sensorineural hearing loss have been recognized in a period of almost 2 years. In view of the great diversity of types that have been recognized in such a short period, it can be expected that over the next 10 years, several dozens genetically-mediated forms of autosomal dominant inherited sensorineural hearing loss will be detected. Similar developments are taking place in the non-syndromic autosomal recessive hereditary forms of sensorineural hearing loss and deafness. The above indicates clearly that before too long, new genetic investigation techniques will enable us to distinguish between forms of sensorineural hearing loss that could not be distinguished in the past.
感音神经性听力损失在约80岁的人群中影响约二分之一的人，在儿童期影响750分之一的人。最广为人知的具有常染色体显性遗传模式的听力损失形式是综合征介导的形式。目前，非综合征性常染色体显性遗传形式只能通过纯音听力图的形状来区分。基于基因连锁研究，在近2年的时间里已经识别出12种不同的常染色体显性遗传性非综合征性感音神经性听力损失的基因型。鉴于在如此短的时间内已识别出的类型具有极大的多样性，可以预计在未来10年里，将检测到几十种基因介导的常染色体显性遗传性感音神经性听力损失形式。类似的进展也发生在非综合征性常染色体隐性遗传性感音神经性听力损失和耳聋中。以上情况清楚地表明，不久之后，新的基因检测技术将使我们能够区分过去无法区分的感音神经性听力损失形式。
