Comprehensive Clinical Diagnostic Pipelines Reveal New Variants in Alpha-1 Antitrypsin Deficiency

Abstract

Alpha-1-antitrypsin deficiency (AATD) is an under-diagnosed disorder associated with mutations in the SERPINA1 gene encoding alpha-1-antitrypsin (AAT). Severe AATD can manifest as pulmonary emphysema and progressive liver disease. Besides the most common pathogenic variants S (E264V) and Z (E342K), many rarer genetic variants of AAT have been found in patients and in the general population. Here we