Format

Send to

Choose Destination
PLoS One. 2012;7(12):e51762. doi: 10.1371/journal.pone.0051762. Epub 2012 Dec 12.

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

Author information

1
Cancer Research Program, Garvan Institute of Medical Research, Sydney, Australia. d.saunders@garvan.org.au

Abstract

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.

PMID:
23251618
PMCID:
PMC3520848
DOI:
10.1371/journal.pone.0051762
[Indexed for MEDLINE]
Free PMC Article

Supplemental Content

Full text links

Icon for Public Library of Science Icon for PubMed Central
Loading ...
Support Center