A disorder clinically resembling cystic fibrosis caused by biallelic variants in the AGR2 gene.

ABSTRACT:

Purpose

We sought to describe a disorder clinically mimicking cystic fibrosis (CF) and to elucidate its genetic cause.

Methods

Exome/genome sequencing and human phenotype ontology data of nearly 40 000 patients from our Bio/Databank were analysed. RNA sequencing of samples from the nasal mucosa from patients, carriers and controls followed by transcriptome analysis was performed.

Results

We identified 13 patients from 9 families with a CF-like phenotype consisting of recurrent lower respiratory infections (13/13), failure to thrive (13/13) and chronic diarrhoea (8/13), with high morbidity and mortality. All patients had biallelic variants in AGR2, (1) two splice-site variants, (2) gene deletion and (3) three missense variants. We confirmed aberrant AGR2

SUBMITTER: Bertoli-Avella A 

PROVIDER: S-EPMC9554030 | biostudies-literature | 2022 Oct

REPOSITORIES: biostudies-literature