Mutation spectrum of autosomal recessive non-syndromic hearing loss in central Iran.

Objective: To identify the spectrum of mutations in connexin 26 gene and frequency of two deletions in connexin 30 gene in central Iran.

Methods: After extraction of DNA from 300 blood samples, connexin 26 gene coding region was amplified using specific primers. PCR products were used for bidirectional sequencing.

A new compound heterozygous mutation in GJB2 causes nonsyndromic hearing loss in a consanguineous Iranian family.

Objective: To investigate mutations in GJB2 in a consanguineous Iranian family with multiple members affected by non-syndromic hearing loss.

Methods: DNA was extracted from blood samples and the coding region of the conexin 26 gene was amplified using PCR. Bidirectional sequencing was carried out on PCR products.