Pathogenicity of p.Phe147del in RET in familial Hirschsprung's disease.

ABSTRACT:

Objective

The study aimed to explore the pathogenicity of RET p.Phe147del in a Hirschsprung'irschspru (HSCR) family and facilitate the deeper understanding of HSCR families.

Methods

Whole-exome sequencing (WES) was performed to decipher a HSCR family. We used a "GlycoEP" tool to analyze RET protein glycosylation. A series of molecular biological approaches including mutated plasmid construction, cell transfection, polymerase chain reaction, immunofluorescence and immunoblotting were introduced to determine the mutation status and altered expression of RET as well as its related genes or proteins. MG132 was applied to analyze the mechanism of mutated RET.

Results

WES and Sanger results revealed that p.Phe147del in-frame mutation (IM) was a potential pathogenetic

SUBMITTER: Wu W 

PROVIDER: S-EPMC10182518 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature