Eudy J D, Weston M D, Yao S, Hoover D M, Rehm H L, Ma-Edmonds M, Yan D, Ahmad I, Cheng J J, Ayuso C, Cremers C, Davenport S, Moller C, Talmadge C B, Beisel K W, Tamayo M, Morton C C, Swaroop A, Kimberling W J, Sumegi J
Department of Pathology and Microbiology, University of Nebraska Medical Center, Omaha, NE 68198, USA.
Science. 1998 Jun 12;280(5370):1753-7. doi: 10.1126/science.280.5370.1753.
Usher syndrome type IIa (OMIM 276901), an autosomal recessive disorder characterized by moderate to severe sensorineural hearing loss and progressive retinitis pigmentosa, maps to the long arm of human chromosome 1q41 between markers AFM268ZD1 and AFM144XF2. Three biologically important mutations in Usher syndrome type IIa patients were identified in a gene (USH2A) isolated from this critical region. The USH2A gene encodes a protein with a predicted size of 171.5 kilodaltons that has laminin epidermal growth factor and fibronectin type III motifs; these motifs are most commonly observed in proteins comprising components of the basal lamina and extracellular matrixes and in cell adhesion molecules.
IIa型Usher综合征（OMIM 276901）是一种常染色体隐性疾病，其特征为中度至重度感音神经性听力损失和进行性视网膜色素变性，定位于人类1号染色体长臂1q41上标记AFM268ZD1和AFM144XF2之间。在从该关键区域分离出的一个基因（USH2A）中，鉴定出了IIa型Usher综合征患者的三个具有生物学重要性的突变。USH2A基因编码一种预测大小为171.5千道尔顿的蛋白质，该蛋白质具有层粘连蛋白表皮生长因子和III型纤连蛋白基序；这些基序最常见于构成基底层和细胞外基质成分的蛋白质以及细胞粘附分子中。
