Hereditary nonsyndromic hearing loss is highly heterogeneous and most patients with a presumed genetic etiology lack a specific diagnosis. It has been estimated that several hundred genes may be associated with this sensory deficit in humans. Here, we identified compound heterozygous mutations in the TMC1 gene as the cause of recessively inherited sensorineural hearing loss by using whole-exome...

Comprehensive genetic testing has the potential to become the standard of care for individuals with hearing loss. In this study, we investigated the genetic etiology of autosomal recessive nonsyndromic hearing loss (ARNSHL) in a Turkish cohort including individuals with cochlear implant, who had a pedigree suggestive of an autosomal recessive inheritance. A workflow including prescreening of GJ...

objectives: hearing loss (hl) is the most common sensory disorder, and affects 1 in 1000 newborns. about 50% of hl is due to genetics and 70% of them are non-syndromic with a recessive pattern of inheritance. up to now, more than 50 genes have been detected which are responsible for autosomal recessive non-syndromic hearing loss, (arnshl). in  iran, hl is one of the most common disabilities due...

Mutations in the connexin 26 (Cx26) gene at the DFNB1 locus on chromosome 13q12 are associated with autosomal recessive non-syndromic hearing loss (ARNSHL). There are many known mutations in this gene that cause hearing loss. A single frameshift, at position 35 (35delG) accounts for 50% of mutations in the Caucasian population with carrier frequencies of 1.5-2.5%. In this study we investigated ...

Hearing Loss (HL) represents high genetic heterogeneity with an incidence of almost 1 out of 500 newborns in most populations. Approximately half of the cases have a genetic basis that most of them are autosomal recessive non-syndromic (ARNSHL) with DFNB1-related defect in many worldwide populations. Given the heterogeneity of the trait together with the unique infrastructure of Iranian populat...