Transcriptome analysis of gingival tissues of enamel-renal syndrome.

ABSTRACT:

Background and objective

Biallelic loss-of-function mutations of human FAM20A have been known to cause enamel-renal syndrome (ERS), featured by agenesis of dental enamel, nephrocalcinosis, and other orodental abnormalities, including gingival hyperplasia. However, while the histopathology of this gingival anomaly has been analyzed, its underlying molecular mechanism remains largely unknown. This study aimed to unravel the pathogenesis of gingival hyperplasia in ERS.

Methods

Whole-exome sequencing was conducted for an ERS case. Transcriptome analyses, using RNA sequencing, of the patient's gingiva were performed to unravel dysregulated molecules and aberrant biological processes underlying the gingival pathology of ERS, which was further confirmed by histology and immunohisto

SUBMITTER: Wang YP 

PROVIDER: S-EPMC6848751 | biostudies-literature | 2019 Dec

REPOSITORIES: biostudies-literature