Smith R J, Pelias M Z, Daiger S P, Keats B, Kimberling W, Hejtmancik J F
University of Iowa Hospitals and Clinics, Iowa City.
Am J Med Genet. 1992 Aug 1;43(6):964-9. doi: 10.1002/ajmg.1320430612.
A number of Usher syndrome (USH) families are found among the French-Acadians living in southwestern Louisiana. These families are descended from a few common ancestors, suggesting that USH may be homogeneous within this ethnic group. However, we report distinct phenotypic variability. Based on differences in psychomotor development and tests of auditory and vestibular function, Acadian individuals with both USH Type 1 and Type 2 can be identified. One additional family, with unusual findings, represents a third clinical phenotype. Linkage data strongly support these clinical observations.
在居住于路易斯安那州西南部的法裔阿卡迪亚人群体中发现了许多患有尤塞氏综合征（USH）的家族。这些家族都源自少数几个共同祖先，这表明在这个族群中USH可能具有同质性。然而，我们报告了明显的表型变异性。基于精神运动发育以及听觉和前庭功能测试的差异，可以识别出同时患有USH 1型和2型的阿卡迪亚个体。另外还有一个家族有异常发现，代表了第三种临床表型。连锁分析数据有力地支持了这些临床观察结果。
