Exome sequencing identifies novel variants associated with non-syndromic hearing loss in the Iranian population.

Abstract excerpt

Autosomal recessive non-syndromic hearing loss (ARNSHL) is a public health concern in the Iranian population, with an incidence of 1 in 166 live births. In the present study, the whole exome sequencing (WES) method was applied to identify the mutation spectrum of NSHL patients negative for GJB2 gene mutations. First, using ARMS PCR followed by Sanger sequencing of the GJB2 gene, 63.15% of mutations in patients...

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• Connexin 26
• Connexins
• Deafness
• Exome Sequencing
• Iran
• Mutation