Analysis Of Gene Mutation In A Hereditary Hearing Loss Family Associated With Vestibular Dysfunction

Objective:To study the molecular etiology of a hereditary hearing loss family associated with vestibular dysfonction by analyzing genetic patterm,phenotypic characteristics and pathogenic gene.Methods:Clinical data(Genetic analysis,history collection,as well as corresponding clinical phenotypic examination)on a hereditary deafness and dizziness family(JSNY?055)were collected.The peripheral blood of patients was collected and genomic DNA was extracted.After the mutation of common deafness gene was eliminated by genetic deafness gene detection kit(microarray chip method),target gene capture and large-scale parallel sequencing were used to target 104(?14)were screened for pathogenic gene mutations in the family of probands(?14),which were related to hereditary hearing loss and three microRNA molecules.The obtained candidate gene mutations were verified by PCR amplification and Sanger sequencing.hn order to clarify the possibility of mutations in candidate genes,further analysis of all exons of the gene was performed to detect the presence of possible pathogenic mutations.Results:A c.1458C>G(p.T352S)heterozygous mutations were found in the exon 11 of the COCH gene of the proband.12,111,115,119,1113 and IVI showed the same heterozygous mutation.While ?11 and ?1 showed that the mutation was homozygous for this mutation,whieh means that there was no cosegregation.Therefore,the possibility of pathogenic mutation in the family could be eliminated.No other mutations were found in the sequence analysis of all 12 exons of the ?14 COCH gene.Conclusion:For the autosomal dominant non-syndromic deafuess with vestibular dysfunction in the family,the preliminary genetic analysis results did not find the candidate deafness gene.Therefore,the molecular causes of the family need further study,such as through the whole exon sequencing technology to screen for possible new deaf gene mutation.