Frei Klemens, Lucas Trevor, Ramsebner Reinhard, Schöfer Christian, Baumgartner Wolf-Dieter, Weipoltshammer Klara, Erginel-Unaltuna Nihan, Wachtler Franz J, Kirschhofer Karin
Department of Otorhinolaryngology, Krankenhaus der Barmherzigen Brüder, Vienna, Austria.
Audiol Neurootol. 2004 Jan-Feb;9(1):47-50. doi: 10.1159/000074186.
Mutations in the connexin 26 (Cx26) gene (GJB2) are a common cause of hereditary hearing impairment which affects approximately 1 in 2000 newborn children. We report the identification of a novel Cx26 point mutation (439 G-->A) linked to familial, autosomal recessive, sensorineural hearing loss. This missense mutation (E147K) is located in the highly conserved, putative K(+) channel lining sequence of the third transmembrane domain (TM3) of Cx26. Hearing impairment associated with this mutation was congenital, moderate to profound and showed no signs of progressive deterioration.
连接蛋白26（Cx26）基因（GJB2）突变是遗传性听力障碍的常见原因，约每2000名新生儿中就有1人受其影响。我们报告了一种与家族性常染色体隐性感音神经性听力损失相关的新型Cx26点突变（439 G→A）。这种错义突变（E147K）位于Cx26第三个跨膜结构域（TM3）高度保守的假定钾离子通道内衬序列中。与该突变相关的听力障碍为先天性，中度至重度，且无进行性恶化迹象。
