Background: Alpha1-antitrypsin (AAT) Deficiency (AATD) is a hereditary autosomal disorder with co-dominant expression, caused by mutations in the SERPINA1 gene. Several deficient variants of AAT have been identified.
 
Objectives: We recently discovered a new pathogenic variant by Comparative Genomic Hybridization Array (Array-CGH) and we set up a testing approach to identify it in the routine diagnosis of AATD.
 
Methods: We developed a rapid allele specific test for the detection of the variant, namely Q0_genova.
 
Results: Q0_genova variant consists on 83Kb-deletion, encompassing both SERPINA1 e SERPINA2 genes and it is related to early and severe pulmonary manifestations.
By applying the test to 183 samples characterized by quantitative AATD and absence of pathogenic mutations by sequencing, we diagnosed the mutation in 12 subjects, always in heterozygosity.

Conclusion: Due to the extremely severe respiratory phenotype of Q0_genova variant, the identification of this mutation could have a great prognostic value and an early and accurate detection would improve the clinical management of patients.