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A novel SERPINA1 mutation causing serum alpha(1)-antitrypsin deficiency

A novel SERPINA1 mutation causing serum alpha(1)-antitrypsin deficiency

Plos one 7(12): E51762

Mutations in the SERPINA1 gene can cause deficiency in the circulating serine protease inhibitor α(1)-Antitrypsin (α(1)AT). α(1)AT deficiency is the major contributor to pulmonary emphysema and liver disease in persons of European ancestry, with a prevalence of 1 in 2500 in the USA. We present the discovery and characterization of a novel SERPINA1 mutant from an asymptomatic Middle Eastern male with circulating α(1)AT deficiency. This 49 base pair deletion mutation (T379Δ), originally mistyped by IEF, causes a frame-shift replacement of the last sixteen α(1)AT residues and adds an extra twenty-four residues. Functional analysis showed that the mutant protein is not secreted and prone to intracellular aggregation.

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Accession: 051190303

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PMID: 23251618

DOI: 10.1371/journal.pone.0051762

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