Eudy J D, Sumegi J
University of Nebraska Medical Center, Nebraska Health Center, Omaha 68198-5660, USA.
Cell Mol Life Sci. 1999 Oct 15;56(3-4):258-67. doi: 10.1007/s000180050427.
The Usher syndrome, an autosomal recessive deafness and blindness, is genetically and clinically heterogeneous. In the past 4 years, genes mutated in Usher syndrome type Ib and type IIa have been described. The Usher Ib gene encodes the motor protein myosin VIIa and was identified as the human homolog of the mouse shaker-1 gene. The Usher type IIa gene was identified by positional cloning and encodes a protein with homology to extracellular matrix proteins and cell adhesion molecules. This review summarizes the current knowledge regarding both the genetic and molecular aspects of Usher syndrome in the context of recent scientific advances in the areas of sensorineural deafness and retinitis pigmentosa.
乌舍尔综合征是一种常染色体隐性遗传性耳聋和失明疾病，在遗传和临床方面具有异质性。在过去4年里，已发现与I b型和II a型乌舍尔综合征相关的突变基因。乌舍尔I b型基因编码运动蛋白肌球蛋白VII a，被确定为小鼠shaker-1基因的人类同源物。乌舍尔II a型基因是通过定位克隆确定的，编码一种与细胞外基质蛋白和细胞粘附分子具有同源性的蛋白质。本综述结合感音神经性耳聋和色素性视网膜炎领域的最新科学进展，总结了目前关于乌舍尔综合征遗传和分子方面的知识。
