A Novel AGR2 Variant Causing Aberrant Monomer-Dimer Equilibrium Leading to Severe Respiratory and Digestive Symptoms.

ABSTRACT: Anterior gradient 2 (AGR2) is a protein disulfide isomerase that is important for protein processing in the endoplasmic reticulum and is essential for mucin production in the digestive and respiratory tracts. Bi-allelic AGR2 variants were recently found to cause recurrent respiratory infections and failure to thrive with or without diarrhea (RIFTD; MIM # 620233), although the mechanisms behind this condition remain unclear. To date, at least 15 patients with homozygous AGR2 variants have been reported. Here, we report two affected siblings in a consanguineous family who had recurrent respiratory infections and digestive symptoms, one of whom needed lung transplantation. To identify the genetic cause of their symptoms, we performed exome sequencing and identified a novel homozygous missense

SUBMITTER: Takada S 

PROVIDER: S-EPMC11646215 | biostudies-literature | 2024 Dec

REPOSITORIES: biostudies-literature