Characterization of a novel SERPINA1 variant carrying two missense mutations: molecular mechanisms and functional impact.

ABSTRACT: Alpha 1-Antitrypsin Deficiency (AATD) is a rare genetic disorder caused by mutations in the SERPINA1 gene, which encodes the Alpha 1-Antitrypsin (AAT) protein. Individuals carrying pathogenic SERPINA1 variants are predisposed to lung and liver damage. The most common AATD-associated SERPINA1 alleles are the S and Z alleles, though additional variants have been identified. This study describes the discovery of a new SERPINA1 variant detected in two unrelated families from two cities in southeastern France. This variant, named PiZ_marseille, results from in cis combination of the PiZ allele and a rare variant known as PiZ_bristol. PiZ_marseille has been associated with early-onset liver disease in childhood. To further investigate this new variant, we performed

SUBMITTER: Leon C 

PROVIDER: S-EPMC12659552 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature