White T W
Department of Cell Biology, Harvard Medical School, Boston, MA 02115, USA.
Brain Res Brain Res Rev. 2000 Apr;32(1):181-3. doi: 10.1016/s0165-0173(99)00079-x.
Mutations in the connexin26 (Cx26) gene are not only a major cause of nonsyndromic deafness, but can also cause syndromic forms of hearing loss that are associated with palmoplantar keratoderma (PPK, i.e., Vohwinkel's syndrome). It is not clear how two very distinct pathologies can arise from different mutations within the same connexin gene. This review summarizes the available data on wildtype and mutant Cx26 channel behavior that has been obtained in the paired Xenopus oocyte assay. These results suggest that dominant and recessive loss of function mutations in Cx26 can cause nonsyndromic deafness, but cannot easily explain the syndromic forms exhibiting PPK. Dominant Cx26 mutations that can cause both PPK and deafness must show some additional alteration of function beyond a simple inhibition of Cx26 activity.
连接蛋白26（Cx26）基因的突变不仅是导致非综合征性耳聋的主要原因，还可引起与掌跖角化病（PPK，即Vohwinkel综合征）相关的综合征性听力损失。目前尚不清楚同一连接蛋白基因内的不同突变如何引发两种截然不同的病理状况。本综述总结了在非洲爪蟾卵母细胞配对实验中获得的关于野生型和突变型Cx26通道行为的现有数据。这些结果表明，Cx26的显性和隐性功能丧失突变可导致非综合征性耳聋，但难以解释表现为PPK的综合征形式。能够导致PPK和耳聋的显性Cx26突变，除了简单抑制Cx26活性外，必定还表现出一些其他的功能改变。
