Relationship Between Deafness Mutation Of SLC26A4 Gene In The Large Vestibular Aqueduct Syndrome And High Resolution Computed Tomography Phenotype Of Temporal Bone In QingHai Area

Objective: To compare the SLC26A4 gene detection of large vestibular aqueduct syndrome with the results of high-resolution CT of the temporal bone.To investigate the diagnosis significance of LVAS detection of SLC26A4 gene of the auxiliary image,feasibility study of gene diagnosis of the disease as a detection method,and understand the epidemic distribution of SLC16A4 gene mutation in the minority in the region of Qing Hai,in order to achieve in the Qing Hai area to provide predictable clinical measures for preserving residual hearing in patients with LVAS,and for the effective prevention and family to provide the correct guidance of life blocking the birth of children with the disease.Methods : 216 cases of deafness in children of Otolaryngology Hospital Affiliated to Qing Hai University collected for cochlear implant in the period from December 2016 to February 2018 in the Qing Hai area as the research object,the collection and analysis of subjects during hospitalization in temporal bone high resolution CT examination results,mutation and collection of peripheral blood after 2-3ml chip kit for detecting SLC26A4 gene on common sites IVS7-2A>G and 2168A>G,the diagnostic results of paired ?2 test examination of large vestibular aqueduct syndrome gene detection and imaging analysis of the differences have statistical significance,if P>0.05,Kappa test to assess both the degree of consistency.Results: Detection of gene mutation in cochlear implantation in children with 216 cases of temporal bone high resolution CT and SLC26A4,through the two diagnostic methods of large vestibular aqueduct syndrome in the detection rate of gender(male and female),differences in ethnic composition were not statistically significant.The study of imaging findings in 39 cases with bilateral large vestibular aqueduct,including 5 cases with cochlear malformation monidi.The results of gene detection showed that there were 36 cases of SLC26A4 gene mutation,18 homozygous mutations,16 heterozygous mutants and 2 complex heterozygous mutations.5 cases of vestibular aqueduct enlargement and cochlear monidi malformation all carry SLC26A4 gene mutation.It was found that 3 cases of large vestibular aqueduct syndrome did not detect the mutation of gene loci in this study.There were no significant differences in the diagnosis of large vestibular aqueduct syndrome between the two methods in children with cochlear implantation in theQing Hai area.There were no significant differences between the two methods in diagnosing the large vestibular aqueduct syndrome(?2=1.33,P>0.05)and the consistency between the two methods was good(Kappa value =0.92)in the children with cochlear implantation in the area of Qing Hai.There were no significant differences between the two methods in the diagnosis of large vestibular aqueduct syndrome(CT).Conclusion:The high-resolution CT examination of the temporal bone plays an important role in the diagnosis of large vestibular aqueduct syndrome.The diagnosis of large vestibular aqueduct syndrome is consistent with two methods of SLC26A4 gene mutation detection and high resolution CT examination of temporal bone in the Qing Hai region.SLC26A4 gene mutation detection can be used as a good auxiliary method for the diagnosis of large vestibular aqueduct syndrome in the high-resolution CT of the temporal bone.