A rare missense variant in APC interrupts splicing and causes AFAP in two Danish families.

ABSTRACT:

Background

We report the first case of a missense variant in the APC gene that interrupts splicing by creating a new cryptic acceptor site. The variant, c.289G>A, p.(Gly97Arg), is located in exon 3, and qualitative and semi-quantitative RNA splicing analysis reveal that the variant results in skipping of the last 70 nucleotides of the exon, which leads to the introduction of a frameshift and a premature stop codon.

Case presentation

The variant was detected in two, apparently unrelated, Danish families with an accumulation of colorectal cancers, colonic adenomas and other cancers. The families both have an attenuated familial adenomatous polyposis phenotype, which is consistent with the association of pathogenic variants in the 5' end of the gene.One variant-carrier a

SUBMITTER: Djursby M 

PROVIDER: S-EPMC7140378 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature