Alpha-1-antitrypsin (SERPINA1) mutation spectrum: Three novel variants and haplotype characterization of rare deficiency alleles identified in Portugal

Alpha-1-antitrypsin deficiency (AATD) is a genetic condition caused by SERPINA1 mutations, which culminates into lower protease inhibitor activity in the serum and predisposes affected individuals to emphysema. Clinical manifestations of AATD are often associated to ZZ (p.Glu342Lys) and SZ (p.Glu264Val) genotypes and less frequently to rare deficiency or null alleles in heterozygous and homozygous states.

Source: Respiratory Medicine CME - May 2, 2016 Category: Respiratory Medicine Authors: Deolinda Silva, Maria João Oliveira, Miguel Guimarães, Ricardo Lima, Sílvia Gomes, Susana Seixas Source Type: research