Alpha1-antitrypsin deficiency (AATD) is a common hereditary disorder associated with high risk of developing pulmonary emphysema early in life and, to a lesser extent, chronic liver disease and cirrhosis. Among Northern Europeans and Northern Americans, more than 95% of individuals with emphysema associated with AATD carry the most frequent AAT deficient gene variants, PI*Z and PI*S. Rare AAT deficient variants account for 2-4% of AATD individuals. We extend the sequence data on AAT by characterizing a novel Null allele detected in 3 subjects: a carrier belonging to an Italian/Egyptian family and 2 members of a family originating from Southern Italy. The mutation raised on a M1 (Ala213) base allele and it is characterized by an A→T transversion at exon III, nt 218, codon 259 (AAA→TAA) (GeneBank accession number AY 256958), The transversion results in a premature stop codon (Lys259AAA→Stop259TAA), The proposed nomenclature of Q0 cairo is from the birthplace of the father of first recognized subject. Serum levels and isoelectric focusing of AAT were consistent with the presence of the Null variant.
|Number of pages||4|
|Journal||Diagnostic Molecular Pathology|
|Publication status||Published - Jun 2005|
- Rare variant
ASJC Scopus subject areas
- Pathology and Forensic Medicine