title: The prevalence and genetic background of hereditary hearing impairment in Estonia
reg no: ETF6808
project type: Estonian Science Foundation research grant
subject: 3.3. Clinical Medicine
3.6. Health Care and Medical Services of Mother and Child
status: accepted
institution: TU Faculty of Medicine
head of project: Katrin Õunap
duration: 01.01.2006 - 31.12.2009
description: Impaired hearing is the most common sensory disorder worldwide. Approximately 70 million people worldwide suffer from impaired hearing, resulting in disturbed communication. It is estimated that 1 in 1000 newborns is affected and half of the cases with congenital impaired hearing are hereditary. Hereditary impaired hearing represents extreme genetic heterogeneity. Over 120 genes have been identified to various human chromosomes, which cause both syndromic and nonsyndromic hearing loss. The main purpose of this study is to investigate genetic background in Estonian children with congenital or early onset hearing loss, to describe genotype/phenotype correlation of them and to establish the prevalence of hereditary impaired hearing among Estonian children. We plan to investigate children with congenital or early onset impaired hearing by APEX (arrayed primer extension) gene chip. We investigate 201 different mutations in 8 different genes, which most frequently cause hereditary impaired hearing. By our knowledge no results of large population screening of numerous genes has been published yet. As the result of current study hopefully new genetic information about genetic background of hereditary impaired hearing in Estonia will be acquired. Providing an exact description of the nature and severity of the hearing loss will hopefully allow optimal therapy and to offer prenatal testing to the families.

project group
no name institution position  
1.Katrin Kruustük 
2.Mart Kull 
3.Elve Raukas 
4.Rita Teek 
5.Katrin ÕunapTartu Ülikool