[Clinical practice guidelines for hereditary non-syndromic deafness].

Genetic factors are a common cause for non-syndromic hearing loss (NSHL). Along with the development and maturity of molecular techniques, genetic diagnosis and counseling is increasingly affecting the clinical practice of NSHL. Newborn hearing screening has facilitated early detection of affected children, whilst genetic screening has enabled identification of the cause of NSHL, and genetic diagnosis and consultation can promote early intervention of deafness. So far 110 pathogenic genes of NSHL have been discovered, though there are still many challenges lying in its clinical identification. The development of genetic counseling and prenatal diagnosis has put forward greater requirements for genetic testing and data interpretation. This guideline has summarized the incidence, mutational spectrum, inheritance mode, pathogenesis, clinical manifestation, genotype - phenotype correlation, genetic testing, treatment and intervention, as well as risk assessment for NSHL, with an aim to provide a reference for genetic consultants, clinical otologists and professionals engaged in genetic testing.