Clinical characterization of a novel alpha1-antitrypsin null variant: PiQ0Heidelberg

Maria A Presotto; Martina Veith; Frederik Trinkmann; Kai Schlamp; Markus Polke; Ralf Eberhardt; Felix Herth; Franziska C Trudzinski

doi:10.1016/j.rmcr.2021.101570

Clinical characterization of a novel alpha1-antitrypsin null variant: PiQ0_Heidelberg

Respir Med Case Rep. 2022 Jan 3:35:101570. doi: 10.1016/j.rmcr.2021.101570. eCollection 2022.

Authors

Maria A Presotto¹, Martina Veith², Frederik Trinkmann¹, Kai Schlamp³, Markus Polke¹, Ralf Eberhardt⁴, Felix Herth¹, Franziska C Trudzinski¹

Affiliations

¹ Department of Pneumology and Critical Care Medicine, Thoraxklinik University of Heidelberg, Translational Lung Research Center Heidelberg (TLRC-H), German Center for Lung Research (DZL), Heidelberg, Germany.
² University Medical Centre Giessen and Marburg, Philipps-University, Dept of Medicine, Pulmonary and Critical Care Medicine, Member of the German Centre for Lung Research (DZL), Marburg, Germany.
³ Department of Radiology, Thoraxklinik University of Heidelberg, Translational Lung Research Center Heidelberg (TLRC-H), German Center for Lung Research (DZL), Heidelberg, Germany.
⁴ Department of Pneumology and Critical Care Medicine, Asklepios Klinik Barmbek, Hamburg, Germany.

Abstract

The clinical characterization of a null variant of SERPINA1 - PiQ0_Heidelberg - resulting in alpha1-antitrypsin (AAT) deficiency is described. This rare mutation (c.-5+5 G > A) has been previously identified but not clinically described. The 77 year-old female patient had GOLD-3, Group B COPD, severe destructive panlobular emphysema and newly observed respiratory failure on exertion at the time the genetic analysis was performed. Serum AAT level was 0.1 g/L (reference 0.9-2.0 g/L). Isoelectric focusing showed only the Z-protein indicating that this was a null mutation. The patient has started AAT replacement. Early screening and identification of AAT deficiency would allow for earlier intervention.

Keywords: Alpha1-antitrypsin; Alpha1-antitrypsin deficiency; Chronic obstructive pulmonary disease; PiQ0Heidelberg; SERPINA1.

Publication types

Case Reports