Sensorineural hearing loss (SNHL) is the most prevalent form of sensory impairment in humans, with approximately 1:1000 live births being born with a serious hearing deficit and at least 50% of these cases are hereditary. Among the genetic forms of deafness, the autosomal recessive forms (DFNB) are the most frequent (80% of the cases) and in most cases are severe. Autosomal recessive prelingual deafness is known to be genetically highly heterogeneous. Hereditary forms of hearing impairment caused by GJB2 mutations are the frequent sensory disorders registered among newborns in various human populations.
Confirmation of a clinical diagnosis, Carrier testing in unaffected family members