Whole exome sequencing study identifies candidate loss of function variants and locus heterogeneity in familial cholesteatoma.

ABSTRACT: Cholesteatoma is a rare progressive disease of the middle ear. Most cases are sporadic, but some patients report a positive family history. Identifying functionally important gene variants associated with this disease has the potential to uncover the molecular basis of cholesteatoma pathology with implications for disease prevention, surveillance, or management. We performed an observational WES study of 21 individuals treated for cholesteatoma who were recruited from ten multiply affected families. These family studies were complemented with gene-level mutational burden analysis. We also applied functional enrichment analyses to identify shared properties and pathways for candidate genes and their products. Filtered data collected from pairs and trios of participants within the ten famili

SUBMITTER: Cardenas R 

PROVIDER: S-EPMC10016674 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature