先天性難聴と遺伝子変異

Congenital hearing loss is one of most common sensory disorder, which occurring in one of every １，０００ babies born. More than ５０％ of congenital hearing loss is genetic, most often autosomal recessive and non-syndromic.
The genetic heterogeneity of hereditary hearing loss is represented by eighty of hearing loss genes. Molecular genetic tests are available for early correct diagnosis of hearing loss and for assessment of presumed hearing type and accompanying symptom.
Early auditory intervention through amplification and special audio education is essential for optimal cognitive development in children with deafness. But some severe hearing loss children can’t achieve adequate verbal skill with amplification and need cochlear implantation. Identification of hearing loss gene variant will tell us the information of state of hearing loss and cochlear implantation result of them.