Identification of a Novel Alpha1-Antitrypsin Null Variant (Q0Cairo)

• DOI: 10.1097/01.pas.0000155023.74859.d6
• Publication Date: 2005-05-19T08:01:55Z
• Authors: Michele Zorzetto; Ilaria Ferrarotti; Ilaria Campo; Antonella Balestrino; Stefano Nava; Marina Gorrini; Roberta Scabini; Paola Mazzola; Maurizio Luisetti
• Keywords: Transversion; Null allele; Alpha 1-antitrypsin deficiency

Alpha1-antitrypsin deficiency (AATD) is a common hereditary disorder associated with high risk of developing pulmonary emphysema early in life and, to lesser extent, chronic liver disease and cirrhosis. Among Northern Europeans Americans, more than 95% individuals AATD carry the most frequent AAT deficient gene variants, PI*Z PI*S. Rare variants account for 2-4% individuals. We extend sequence data on by characterizing novel Null allele detected 3 subjects: carrier belonging an Italian/Egyptian family 2 members originating from Southern Italy. The mutation raised M1 (Ala213) base it characterized A-->T transversion at exon III, nt 218, codon 259 (AAA-->TAA) (GeneBank accession number AY 256958). results premature stop (Lys259AAA-->Stop259TAA). proposed nomenclature Q0cairo birthplace father first recognized subject. Serum levels isoelectric focusing were consistent presence variant.