Novel Genotype-Phenotype Association with Wide-Ranging Implications

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

Cystic fibrosis (CF) is the most prevalent autosomal recessive genetic disorder; it has been assumed to be genetically homogeneous. Researchers at CENTOGENE, however, have now identified a second CF gene. They utilized the extensive data available in the company’s meticulously curated Biodatabank. Their finding, which has wide-ranging implications for CF in general, was published in the highly prestigious Journal of Medical Genetics.


  • Aida M. Bertoli-Avella , MD
  • et al.