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

Conclusion We describe a previously unrecognised autosomal recessive disorder caused by AGR2 variants. AGR2-related disease should be considered as a differential diagnosis in patients presenting a CF-like phenotype. This has implications for the molecular diagnosis and management of these patients. AGR2 LoF is likely the disease mechanism, with consequent impairment of the mucociliary defence machinery. Future studies should aim to establish a better understanding of the disease pathophysiology and to identify potential drug targets.

http://jmg.bmj.com/cgi/content/short/59/10/993?rss=1

Source: Journal of Medical Genetics - September 26, 2022 Category: Genetics & Stem Cells Authors: Bertoli-Avella, A., Hotakainen, R., Al Shehhi, M., Urzi, A., Pareira, C., Marais, A., Al Shidhani, K., Aloraimi, S., Morales-Torres, G., Fisher, S., Demuth, L., Moteleb Selim, L. A., Al Menabawy, N., Busehail, M., AlShaikh, M., Gilani, N., Chalabi, D. N., Tags: Open access Novel disease loci Source Type: research