1. Novel candidate genes for cholesteatoma in chronic otitis media
- Author
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Nam K. Lee, Stephen P. Cass, Samuel P. Gubbels, Helen Z. Gomez, Melissa A. Scholes, Herman A. Jenkins, and Regie Lyn P. Santos-Cortez
- Subjects
cholesteatoma ,otitis media ,exome sequencing ,network analysis ,chronic otitis media ,Genetics ,QH426-470 - Abstract
Cholesteatoma is a rare and benign disease, but its propensity to cause erosive damage through uninhibited growth can be detrimental to hearing and health. Prior reports indicated a genetic component to pathogenesis in at least a subset of patients. In this study, we aimed to identify rare DNA variants in affected patients. The salivary DNA of six patients whose middle ear tissues were obtained during tympanoplasty/mastoidectomy surgeries were submitted for exome sequencing. Tissue samples from the same patients were previously submitted for mRNA sequencing and analyzed for differentially expressed genes (DEGs). From the generated exome sequence data, rare predicted-to-be-damaging variants were selected within previously identified DEGs, and the candidate genes within which these rare variants lie were used for network analysis. Exome sequencing of six DNA samples yielded 5,078 rare variants with minor allele frequency
- Published
- 2023
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