Molecular genetics of usher syndrome

Autor: L. U. Dzehemileva, Elza Khusnutdinova, A. M. Tazetdinov
Rok vydání: 2008
Předmět:
Zdroj: ResearcherID
ISSN: 1608-3369
1022-7954
DOI: 10.1134/s102279540806001x
Popis: 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.
Databáze: OpenAIRE
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