Alpha-1 antitrypsin deficiency caused by a novel mutation (p.Leu263Pro): Pi*ZQ0gaia – Q0gaia allele

Publication date: Available online 14 August 2015 Source:Revista Portuguesa de Pneumologia (English Edition) Author(s): M.J. Oliveira, S. Seixas, I. Ladeira, R. Monteiro, T. Shiang, M. Guimarães, R. Lima Severe alpha-1 antitrypsin deficiency (AATD) is generally associated with PI*ZZ genotype and less often with combinations of PI*Z, PI*S, and other rarer deficiency or null (Q0) alleles. Severe AATD predisposes patients to various diseases, including pulmonary emphysema. Presented here is a case report of a young man with COPD and AATD. The investigation of the AATD showed a novel mutation p.Leu263Pro (c.860T>C), which was named Q0gaia (Pi*ZQ0gaia). Q0gaia is associated with very low or no detectable serum concentrations of AAT.
Source: Revista Portuguesa de Pneumologia - Category: Respiratory Medicine Source Type: research