Unidad de Genetica Molecular, Hospital Universitario Ramon y Cajal, IRYCIS, Madrid, Spain.
Front Biosci (Landmark Ed). 2011 Jun 1;16(9):3252-74. doi: 10.2741/3910.
Inherited hearing impairment is a frequent and highly heterogeneous condition. Among the different subtypes of autosomal recessive non-syndromic hearing impairment, DFNB1 is remarkable for its high frequency in most populations. It is caused by mutations in the coding region or splice-sites of the GJB2 gene, or by mutations affecting regulatory sequences that are essential for the expression of this gene. GJB2 encodes connexin-26, a protein component of intercellular gap junctions, which play crucial physiological roles in the cochlea. Because of its high frequency, DFNB1 hearing impairment has received continued attention from researchers along the years, resulting in a wealth of data that is unparalleled among these disorders. Here we review our current knowledge on the genetic, molecular, and phenotypic aspects of this subtype of hearing impairment.
遗传性听力损失是一种常见且高度异质性的疾病。在不同的常染色体隐性非综合征性听力损失亚型中，DFNB1 在大多数人群中的发生率很高。它是由 GJB2 基因编码区或剪接位点的突变，或由影响该基因表达所必需的调控序列的突变引起的。GJB2 编码连接蛋白-26，这是细胞间缝隙连接的一种蛋白成分，在耳蜗中发挥着至关重要的生理作用。由于其高频率，DFNB1 听力损失多年来一直受到研究人员的关注，产生了大量无与伦比的数据。在这里，我们回顾了这种听力损失亚型的遗传、分子和表型方面的现有知识。
