Functional and clinical significance of novel SERPINA1 variants on alpha-1 antitrypsin deficiency

[Background] Mutations in the SERPINA1 gene can result in alpha-1 antitrypsin deficiency (AATD), which may be associated with lung or liver injury. Although the S and Z alleles account for over 95% of cases of AATD, a wide variety of rare variants have been linked to deficiency and dysfunction, whil...

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Detalles Bibliográficos
Autores: Matamala, Nerea, Osaba, Lourdes, Drobnic, Estrella, Gil-Martín, Sara, Martín-Galiano, Antonio J., Almadana-Pacheco, Virginia, Cazorla, Maria Jesús, Costa, Fabio, Souza-Sokoloski, Caroline, Çörtük, Mustafa, Serra-Fortuny, Mireia, Ortiz-de Saracho, Juan, Lloret-Queraltó, Juan Antonio, Rodriguez-Lázaro, Nuria, Michel-de la Rosa, Francisco Javier, Rodríguez-Hermosa, Juan Luis, Saldaña-Pérez, Leonardo, Akıncı, Elif, Alonso, Javier, Benítez-Buelga, Carlos, Gómez-Mariano, Gema, López-Campos, José Luis, Martínez-Delgado, Beatriz
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2026
País:España
Institución:Consejo Superior de Investigaciones Científicas (CSIC)
Repositorio:DIGITAL.CSIC. Repositorio Institucional del CSIC
OAI Identifier:oai:dnet:digitalcsic_::c81872047aae2d6f02d88cc460e2f124
Acceso en línea:http://hdl.handle.net/10261/432047
https://api.elsevier.com/content/abstract/scopus_id/105030840148
Access Level:acceso abierto
Palabra clave:Alpha1 antitrypsin deficiency
Diagnosis
Mutations
SERPINA1
Descripción
Sumario:[Background] Mutations in the SERPINA1 gene can result in alpha-1 antitrypsin deficiency (AATD), which may be associated with lung or liver injury. Although the S and Z alleles account for over 95% of cases of AATD, a wide variety of rare variants have been linked to deficiency and dysfunction, while other variants are associated with normal alpha-1 antitrypsin (AAT) levels and activity. Here, we present the identification and characterization of thirteen rare SERPINA1 variants discovered during the genetic diagnosis of AATD by the Progenika diagnostic network.

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