Trop I, Schloss M D, Polomeno R, Der Kaloustian V
McGill University Medical School, Montreal, Quebec.
J Otolaryngol. 1995 Apr;24(2):102-4.
Usher syndrome is a heterogeneous group of disorders of autosomal recessive inheritance characterized by retinitis pigmentosa and congenital sensorineural hearing loss. Two types are accepted clinically: type I is associated with profound congenital deafness with progressive pigmentary retinopathy and total loss of vestibular function. Type II is a milder form, with moderate-to-profound hearing loss and a milder form of retinitis pigmentosa. Vestibular function is preserved. A total of five loci have been identified as accounting for the two distinct phenotypic presentations. We describe a consanguineous family of Pakistani origin whose four children all are affected with Usher syndrome type I. DNA analysis showed non-linkage to any of the loci already identified as tightly linked to the Usher syndrome type I.
尤塞氏综合征是一组常染色体隐性遗传的异质性疾病，其特征为色素性视网膜炎和先天性感音神经性听力损失。临床上认可两种类型：I型与先天性重度耳聋、进行性色素性视网膜病变以及前庭功能完全丧失有关。II型症状较轻，有中度至重度听力损失和较轻形式的色素性视网膜炎。前庭功能得以保留。总共已确定五个基因座可解释这两种不同的表型表现。我们描述了一个来自巴基斯坦的近亲家庭，其四个孩子均患有I型尤塞氏综合征。DNA分析表明，与任何已确定与I型尤塞氏综合征紧密连锁的基因座均无连锁关系。
