A distinct APC pathogenic germline variant identified in a southern Thai family with familial adenomatous polyposis.

ABSTRACT:

Background

Familial adenomatous polyposis (FAP) is caused by pathogenic germline variants in the APC gene. To date, multiple pathogenic variants in coding regions, splice sites, and deep intronic regions have been revealed. However, there are still pathogenic variants that remain unidentified.

Methods

Twenty-nine primer pairs flanking exons 2-16 (i.e., coding exons 1-15) of APC and their exon-intron junctions were used for germline pathogenic variant screening in Southern Thai patients with familial adenomatous polyposis (FAP). Transcription analysis was performed to confirm the pathogenicity of a splice site deletion of intron 10. Family members were interviewed for clinical histories. Blood samples were collected from 18 family members for a segregation study. Subsequently

SUBMITTER: Wanitsuwan W 

PROVIDER: S-EPMC7980625 | biostudies-literature | 2021 Mar

REPOSITORIES: biostudies-literature