Saeed Tarverdizadeh
Tehran University of Medical Sciences, Iran
Title: Autosomal recessive non syndromic hearing loss (ARNSH): Different mutations spectrum in Iran
Biography
Biography: Saeed Tarverdizadeh
Abstract
Sensorineural hearing loss is the most common disorder in humans that heterogeneity is high, and one out of every 1,000 to 2,000 newborns, affected by sensorineural hearing loss. More than 50 percent of the causes of deafness have been attributed to genetic factors. Non-syndromic hearing loss include more than 70 percent of cases of hereditary deafness; which 85% of NSHL have autosomal recessive hereditary pattern. So far, more than 100 loci for this type of hearing loss are estimated. Nuclear and mitochondrial gene mutations can cause this disease. Of which DFNB1 locus is responsible for half of recessive deafness; including transfer protein genes and ion channel protein like connexin 26 and 30. In Iran, this locus is a primary cause of hearing loss. GJB2 mutations especially 35del G play important role in developing hearing loss in Iran. After that, mutations in SLC26A4 gene in DFNB4 locus are the second cause of ARNSH in our country. The next locus to study could be DFNB59 that contains PJVK gene and it is highly prevalent in Iran. Also mutations in mitochondrial genes such as 12S rRNA genes are involved in development of pre lingual non-syndromic hearing loss.