Molecular genetic study of Usher syndrome in Spain

被引：0
|
作者：
Jaijo, T. [1 ]
Aller, E. [1 ,2 ]
Beneyto, M. [1 ]
Najera, C. [2 ]
Millan, J. M. [1 ]
机构：
[1] Hosp Univ La Fe, Unidad Genet, Avda Campanar 21, Valencia 46009, Spain
[2] Univ Valencia, Dept Genet, Valencia, Spain
来源：
ACTA OTORRINOLARINGOLOGICA ESPANOLA | 2005年 / 56卷 / 07期
关键词：
Usher syndrome; Retinitis pigmentosa; Vestibular arreflexia; Molecular characterization;
D O I：
10.1016/S0001-6519(05)78616-7
中图分类号：
R76 [耳鼻咽喉科学];
学科分类号：
100213 ;
摘要：
Usher syndrome (USH) associates deafness and retinitis pigmentosa (RP). It is a disease both clinically and genetically heterogeneous. It is inherited as an autosomal recessive trait and its prevalence makes it the most frequent association of hearing loss and RP. Clinically Usher syndrome is divided into type I (USH1), II (USH2) and III (USH3), according to the severity of hearing loss, age of onset of RP and the existence or not of vestibular dysfunction. There are at least 7 different localizations for USH1 and 5 genes have been identified. For USH2, 3 loci and 2 genes have been reported and USH3 is due to Clarin-1 gene. Our aim is to perform a clinical and genetic characterization of all Usher syndrome patients in Spain.
引用
收藏
页码：285 / 289
页数：5
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