Biochemistry Laboratory, IDI-IRCCS, C/O Department of Experimental Medicine and Biochemical Sciences, University of Rome Tor Vergata, 00133 Rome, Italy.
Biochem Biophys Res Commun. 2010 Apr 23;395(1):25-30. doi: 10.1016/j.bbrc.2010.03.098. Epub 2010 Mar 20.
KID syndrome (MIM 148210) is an ectodermal dysplasia characterized by the occurrence of localized erythematous scaly skin lesions, keratitis and severe bilateral sensorineural deafness. KID syndrome is inherited as an autosomic dominant disease, due to mutations in the gene encoding gap junction protein GJB2 (connexin 26, Cx26). Cx26 is a component of gap junction channels in the epidermis and in the stria vascularis of the cochlea. These channels play a role in the coordinated exchange of molecules and ions occurring in a wide spectrum of cellular activities. In this paper we describe two patients with Cx26 mutations cause cell death by the alteration of protein trafficking, membrane localization and probably interfering with intracellular ion concentrations. We discuss the pathogenesis of both the hearing and skin phenotypes.
KID 综合征（MIM 148210）是一种外胚层发育不良，其特征为局部红斑鳞屑性皮肤损害、角膜炎和严重双侧感觉神经性耳聋。KID 综合征为常染色体显性遗传疾病，由于编码间隙连接蛋白 GJB2（连接蛋白 26，Cx26）的基因突变所致。Cx26 是表皮和耳蜗血管纹间隙连接通道的组成部分。这些通道在广泛的细胞活动中发生的分子和离子的协调交换中发挥作用。在本文中，我们描述了两个 Cx26 突变患者，这些突变通过改变蛋白转运、膜定位并可能干扰细胞内离子浓度导致细胞死亡。我们讨论了听力和皮肤表型的发病机制。
