Denoyelle F, Marlin S, Petit C, Garabédian E N
Service d'ORL pédiatrique et de chirurgie cervicofaciale, Hôpital d'enfants Armand-Trousseau, Paris.
Rev Prat. 2000 Jan 15;50(2):146-9.
Deafness is the most common sensory defect. The investigation of the cause of deafness is critical for genetic counselling, and sometimes for appropriate management of associated pathologies. About two thirds of cases of congenital deafness are genetic forms, and the proportion is probably similar concerning the forms of deafness that appears during childhood. Some of the genetic forms are syndromic and the associated signs are sometimes inapparent or may appear during childhood. Consequently, a systematic search for the most frequent syndromes is necessary in each deaf individual. In the majority of genetic cases, deafness is the sole defect (non-syndromic deafness) and the major mode of transmission is autosomal recessive. The DFNB1 form of deafness, due to connexin 26 gene mutations, underlies half of the cases of non syndromic congenital deafness cases. The hearing loss has a prelingual onset, and it is most frequently severe or profound. There is no associated pathologies or radiological anomalies of the inner ear, and the vestibular tests are normal. The possibility of offering molecular diagnosis of connexin 26 gene defects is profoundly modifying daily medical practice in the investigation of the cause of deafness.
耳聋是最常见的感觉缺陷。对耳聋病因的调查对于遗传咨询至关重要，有时对于相关病症的适当管理也很关键。约三分之二的先天性耳聋病例为遗传形式，儿童期出现的耳聋形式的比例可能与此相似。一些遗传形式是综合征性的，相关体征有时不明显或可能在儿童期出现。因此，对每一位耳聋患者进行最常见综合征的系统筛查是必要的。在大多数遗传病例中，耳聋是唯一的缺陷（非综合征性耳聋），主要遗传方式是常染色体隐性遗传。由于连接蛋白26基因突变导致的DFNB1型耳聋占非综合征性先天性耳聋病例的一半。听力损失在语言发育前发病，最常见的是重度或极重度。内耳无相关病症或放射学异常，前庭测试正常。提供连接蛋白26基因缺陷分子诊断的可能性正在深刻改变耳聋病因调查中的日常医疗实践。
