Distinct non-clock-like signatures of the basal cell carcinomas from three sisters with a lethal Gorlin-Goltz syndrome.

ABSTRACT:

Background

Gorlin-Goltz syndrome (GS) is an inherited disease characterized by predisposition to basal cell carcinomas (BCCs) and various developmental defects, whose numerous disease-causing PTCH1 mutations have been identified in the hedgehog (Hh) signaling pathway.

Methods

In this study, whole exome sequencing was used to screen for both somatic and germline deleterious mutations in three sisters with a lethal GS. The mutations we found were confirmed by subcloning and Sanger sequencing of the genomic DNA. RNA-seq was performed to profile gene expression in paired BCCs samples and the expression levels for selected genes were validated by quantitative PCR.

Results

The clinical and histopathologic features were analyzed for the proband in the three-generation GS fam

SUBMITTER: Ye L 

PROVIDER: S-EPMC9354412 | biostudies-literature | 2022 Aug

REPOSITORIES: biostudies-literature