A case report of non-syndromic sensorineural hearing loss with a compound heterozygous mutation (35delG/del120E) in the GJB2 gene

Hearing loss is one of the most common sensorineural disorders that occur in 1:1000. Mutation in the GJB2 (CX26) gene at the DFNB1 locus on chromosome 13q12 is the most important cause of congenital hearing loss. The aim of this study was to determine the hearing loss causative mutations in the GJB2 gene in a 37 year-old woman with non-syndromic congenital hearing loss. A compound heterozygous mutation (35delG/del120E) was found in the GJB2 gene. With regards to the variety of mutations in the GJB2 gene, screening the causative mutations of hearing loss is recommended for subjects referred to genetics counseling centers before marriage and pregnancy