Title :

Description of 22 new alpha-1 antitrypsin genetic variants

Author(s) :

Renoux, Celine [Auteur]
Laboratoire Interuniversitaire de Biologie de la Motricité [LIBM]
Odou, Marie-Francoise [Auteur]
498252|||Lille Inflammation Research International Center - U 995 [LIRIC] (OLD)
Institut de Biochimie et Biologie Moléculaire [CHRU Lille]
Tosato, Guillaume [Auteur]
Service de biochimie et biologie moléculaire
Teoli, Jordan [Auteur]
Service de Biochimie et Biologie Moléculaire Grand Est [HCL, Lyon] [Centre de Biologie et de Pathologie]
Abbou, Norman [Auteur]
Service de Biochimie et Biologie Moléculaire Grand Est [HCL, Lyon] [Centre de Biologie et de Pathologie]
Lombard, Christine [Auteur]
Service d'immunologie [Centre Hospitalier Lyon Sud - HCL]
Zerimech, Farid [Auteur]
Institut de Biochimie et Biologie Moléculaire [CHRU Lille]
171461|||Impact de l'environnement chimique sur la santé humaine - ULR 4483 [IMPECS] (VALID)
Porchet, Nicole [Auteur]
Service de biochimie et biologie moléculaire
Centre Hospitalier Régional Universitaire [CHU Lille] [CHRU Lille]
Chapuis Cellier, Colette [Auteur]
Centre Hospitalier Lyon Sud [CHU - HCL] [CHLS]
Balduyck, Malika [Auteur]
Maladies RAres du DEveloppement embryonnaire et du MEtabolisme : du Phénotype au Génotype et à la Fonction - ULR 7364 [RADEME]
Institut de Biochimie et Biologie Moléculaire [CHRU Lille]
Joly, Philippe [Auteur]
1051691|||Service de Biochimie et Biologie Moléculaire Grand Est [HCL, Lyon] [Centre de Biologie et de Pathologie] (VALID)
Laboratoire Interuniversitaire de Biologie de la Motricité [LIBM]

Journal title :

Orphanet Journal of Rare Diseases

Abbreviated title :

Orphanet J Rare Dis

Volume number :

13

Pages :

161

Publisher :

BioMed Central

Publication date :

2018-09-17

ISSN :

1750-1172

English keyword(s) :

Alpha-1 antitrypsin deficiency
SERPINA1 genotyping
Null alleles

HAL domain(s) :

Sciences du Vivant [q-bio]

English abstract : [en]

Alpha-1 antitrypsin deficiency is an autosomal co-dominant disorder caused by mutations of the highly polymorphic SERPINA1 gene. This genetic disorder still remains largely under-recognized and can be associated with lung ...
Show more >Alpha-1 antitrypsin deficiency is an autosomal co-dominant disorder caused by mutations of the highly polymorphic SERPINA1 gene. This genetic disorder still remains largely under-recognized and can be associated with lung and/or liver injury. The laboratory testing for this deficiency typically comprises serum alpha-1 antitrypsin quantification, phenotyping according to the isoelectric focusing pattern and genotyping if necessary. To date, more than 100 SERPINA1 variants have been described and new genetic variants are frequently discovered. Over the past 10 years, 22 new genetic variants of the SERPINA1 gene were identified in the daily practice of the University Medical laboratories of Lille and Lyon (France). Among these 22 variants, seven were Null alleles and one with a M1 migration pattern (M1 ) was considered as deficient according to the clinical and biological data and to the American College of Medical Genetics and Genomics (ACMG) criteria. Three other variants were classified as likely pathogenic, three as variants of uncertain significance while the remaining ones were assumed to be neutral. Moreover, we also identified in this study two recently described SERPINA1 deficient variants: Trento (p.Glu99Val) and S (p.Ser38Phe). The current data, together with a recent published meta-analysis, represent the most up-to-date list of SERPINA1 variants available so far.Show less >

Language :

Anglais

Peer reviewed article :

Oui

Audience :

Internationale

Popular science :

Non

Other project(s) or funding source(s) :

Hospices Civils de Lyon (HCL)
Centre Hospitalier Régional Universitaire (CHRU) de Lille

Administrative institution(s) :

CHU Lille
Inserm
Institut Pasteur de Lille
Université de Lille

Collections :

• IMPact de l'Environnement Chimique sur la Santé humaine (IMPECS) - ULR 4483
• Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364

Submission date :

2019-10-22T08:28:06Z
2022-09-14T08:24:42Z
2024-02-20T11:32:59Z