A Dominant Mutation in the Stereociliary Gene TBC1D24 is a Probable Cause for Non-syndromic Hearing

来源 :The 4th East Asian Symposium on Otology(第四届东亚耳科研讨会) | 被引量 : 0次 | 上传用户:gaodmljs
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Objective: To identify the genetic cause of a large dominant family segregated with late-onset, progressive, non-syndromic hearing impairment.Methodology: Critical interval of the causative gene was mapped by linkage analysis of the family members.Candidate mutations were identified by whole-exome sequencing of selected family members and confirmed by Sanger sequencing.Cochlear expression of the Tbcld24 gene was investigated by reversed transcriptase PCR and immunostaining of P1-P24 mouse organ of Corti.
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