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HEREDITARY MONOGENIC DISEASES

           

Nonsyndromic Hearing Loss and Deafness, DFNB1

Congenital deafness is defined as hearing loss that occurs at birth and therefore before the development of speech. It is considered the most prevalent neurosensory disorder and it is estimated that 50% of the cases are of genetic origin. Of the cases with a genetic basis, more than 75% are of autosomal recessive inheritance.

To date, there is no known cure for this disease. Treatment options include cochlear implants, hearing aids and educational programs for people with hearing loss.

More than 90 genes have been identified whose alteration is related to some type of deafness, although mutations in the gene GJB2, which encodes for conexin 26, are responsible for 60% of the cases of autosomal recessive non-syndromic neurosensory deafness in the Caucasian population.

GENE OR REGION STUDIED


  • GJB2