Research On The Molecular Genetics, Inner Ear Malformaitons And The Effect Of Cochlear Implants Of Waardenburg Syndrome

Waardenburg syndrome (WS) is a rare hereditary hearing-pigment disordersyndrome. According to the clinical manifestations, WS is classified to4typescurrently, namely WS1, WS2, WS3and WS4. WS1and WS2are more common inour country. The virulence gene PAX3and MITF,SOX10were found to have a clearcorrelation with WS1and WS2. Research on the molecular genetic characteristics ofWS can improve the gene diagnosis and prenatal diagnosis, decrease the incidence ofWS patients and help to understand the functions of each gene. Analyzing thecharacteristics of inner ear malformations, discussing the correlation between genetype and inner ear malformations and estimating the hearing and speech rehabilitationafter cochlear implantation provide reference to evaluation of operation and to choosethe appropriate implanted electrodes for the WS patients. It helps to improve thehearing and speech level and the life quality of WS patients.17WS patients (1WS1patient and16WS2patients) who came to the PLAgeneral hospital for treatment were collected and they were explicitly diagnosed asextreme sensorineural hearing loss. The cochlear implantation was performed to15ofthem in our section. The high-resolution CT scanning of the temporal bone andthree-dimensional reconstruction of inner ear of all the17patients were checked. Allexons of the gene coding region of PAX3, MITF and SOX10were sequenced. Thehearing and speech rehabilitation of15patients who undertook the cochlearimplantation were estimated.Pathogenic gene mutations were found in8of the17patients-5newlydiscovered and3previously reported. The imaging examinations of10patientsshowed no significant abnormality, with3patients carrying MITF mutation,1patientcarrying PAX3mutation and no gene mutation were screened for the other6patients. The imaging examinations of7patients showed bilateral inner ear malformation, with4patients carrying SOX10mutation and no gene mutation were screened for the other3patients. All the electrodes were embedded successfully into15patients, and all thepatients’ hearing and speech abilities are significantly improved.