Surdités de perception d'origine génétique

Hearing loss is the most frequent sensory defect in humans; it is from genetic origin in most cases. Numerous genes may be responsible for early- or late-onset forms of isolated (non-syndromic) deafness and hundreds of syndromes with hearing loss have been described. To date, 33 genes have been identified in non-syndromic forms, and over one hundred genes in syndromic forms. A molecular diagnosis is routinely available for some of these genes, in particular for the connexin26 gene GJB2, highly prevalent in congenital non-syndromic forms. Clinical and para-clinical assessments are important to establish the molecular diagnosis strategies and genetic counselling.