Molecular genetics of usher syndrome

被引:0
|
作者
A. M. Tazetdinov
L. U. Dzehemileva
E. K. Khusnutdinova
机构
[1] Russian Academy of Sciences,Institute of Biochemistry and Genetics, Ufa Research Center
来源
Russian Journal of Genetics | 2008年 / 44卷
关键词
Hair Cell; Retinitis Pigmentosa; Cochlear Implant; Vestibular Dysfunction; Usher Syndrome;
D O I
暂无
中图分类号
学科分类号
摘要
Usher syndrome (USH) is inherited in an autosomal recessive mode. The disease is characterized by hearing loss, progressing vision loss, and vestibular dysfunction. In most cases, it is the reason for deafness and blindness in school-age children. The prevalence of USH in the main population is estimated as 4.4 per 100000 individuals, approximately. The prevalence of heterozygous carriers can reach 1 per 70 normally hearing individuals. There is currently no effective treatment of USH. The patients are provided with hearing aids, but, in case of severe hearing impairement these aids give no effect. In view of this, developing diagnostic methods is important. It is believed that molecular genetic investigations will enable early diagnostics of the syndrome.
引用
收藏
页码:627 / 634
页数:7
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