Alpha-1 antitrypsin deficiency caused by a novel mutation (p.Leu263Pro): Pi*ZQ0gaia – Q0gaia allele
M.J.. Oliveiraa,, , S.. Seixasb,c, I.. Ladeiraa, R.. Monteiroa, T.. Shianga, M.. Guimarãesa, R.. Limaa
a Department of Pulmonology, Centro Hospitalar de Vila Nova de Gaia/Espinho, Portugal
b Investiga????o e Inova????o em Sa??de (I3S), University of Porto, Portugal
c Institute of Molecular Pathology and Immunology (IPATIMUP), University of Porto, Portugal
Abstract
Abstract

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.

Keywords
Alpha-1 antitrypsin deficiency, Null allele, COPD

Metrics

  • Impact Factor: 1.560(2016)
  • 5-years Impact Factor: 1,100
  • SCImago Journal Rank (SJR):0,29
  • Source Normalized Impact per Paper (SNIP):0,685