A new SERPINA1 null allele of the PI*S-plus type: PI*Q0
PI*Q0<sub>Tegueste</sub> is a novel PI*S-plus null allele causing AATD through degradation of SERPINA1 mRNA. Our finding highlights the importance of combining standard genotyping and haplotype reconstruction for accurate AATD diagnosis, especially when a compound heterozygous for deleterious variants is detected.
Authors
- José María Hernández Pérez (ORCID: https://orcid.org/0000-0002-2920-212X)
- José A. Pérez (ORCID: https://orcid.org/0000-0002-5662-7246)
- Francisco Martínez Bugallo
- Ainhoa Escuela-Escobar (ORCID: https://orcid.org/0009-0002-8517-161X)
- Mario Andrés González-Carracedo
- Ruth López Travieso
Institutions
- Universidad de La Laguna (ES)
- Hospital Universitario Nuestra Señora de Candelaria (ES)
Publication Details
- Journal
- Gene
- Published
- 2025-08-30
- DOI
- https://doi.org/10.1016/j.gene.2025.149741
- Primary Topic
- Peptidase Inhibition and Analysis
- Type
- article
- Field-Weighted Citation Impact
- 0.00