Cargando…
Description of 22 new alpha-1 antitrypsin genetic variants
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 comp...
Autores principales: | , , , , , , , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2018
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6142351/ https://www.ncbi.nlm.nih.gov/pubmed/30223862 http://dx.doi.org/10.1186/s13023-018-0897-0 |
_version_ | 1783355840820936704 |
---|---|
author | Renoux, Céline Odou, Marie-Françoise Tosato, Guillaume Teoli, Jordan Abbou, Norman Lombard, Christine Zerimech, Farid Porchet, Nicole Chapuis Cellier, Colette Balduyck, Malika Joly, Philippe |
author_facet | Renoux, Céline Odou, Marie-Françoise Tosato, Guillaume Teoli, Jordan Abbou, Norman Lombard, Christine Zerimech, Farid Porchet, Nicole Chapuis Cellier, Colette Balduyck, Malika Joly, Philippe |
author_sort | Renoux, Céline |
collection | PubMed |
description | 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(Cremeaux)) 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(Donosti) (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. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (10.1186/s13023-018-0897-0) contains supplementary material, which is available to authorized users. |
format | Online Article Text |
id | pubmed-6142351 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-61423512018-09-20 Description of 22 new alpha-1 antitrypsin genetic variants Renoux, Céline Odou, Marie-Françoise Tosato, Guillaume Teoli, Jordan Abbou, Norman Lombard, Christine Zerimech, Farid Porchet, Nicole Chapuis Cellier, Colette Balduyck, Malika Joly, Philippe Orphanet J Rare Dis Letter to the Editor 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(Cremeaux)) 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(Donosti) (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. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (10.1186/s13023-018-0897-0) contains supplementary material, which is available to authorized users. BioMed Central 2018-09-17 /pmc/articles/PMC6142351/ /pubmed/30223862 http://dx.doi.org/10.1186/s13023-018-0897-0 Text en © The Author(s). 2018 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated. |
spellingShingle | Letter to the Editor Renoux, Céline Odou, Marie-Françoise Tosato, Guillaume Teoli, Jordan Abbou, Norman Lombard, Christine Zerimech, Farid Porchet, Nicole Chapuis Cellier, Colette Balduyck, Malika Joly, Philippe Description of 22 new alpha-1 antitrypsin genetic variants |
title | Description of 22 new alpha-1 antitrypsin genetic variants |
title_full | Description of 22 new alpha-1 antitrypsin genetic variants |
title_fullStr | Description of 22 new alpha-1 antitrypsin genetic variants |
title_full_unstemmed | Description of 22 new alpha-1 antitrypsin genetic variants |
title_short | Description of 22 new alpha-1 antitrypsin genetic variants |
title_sort | description of 22 new alpha-1 antitrypsin genetic variants |
topic | Letter to the Editor |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6142351/ https://www.ncbi.nlm.nih.gov/pubmed/30223862 http://dx.doi.org/10.1186/s13023-018-0897-0 |
work_keys_str_mv | AT renouxceline descriptionof22newalpha1antitrypsingeneticvariants AT odoumariefrancoise descriptionof22newalpha1antitrypsingeneticvariants AT tosatoguillaume descriptionof22newalpha1antitrypsingeneticvariants AT teolijordan descriptionof22newalpha1antitrypsingeneticvariants AT abbounorman descriptionof22newalpha1antitrypsingeneticvariants AT lombardchristine descriptionof22newalpha1antitrypsingeneticvariants AT zerimechfarid descriptionof22newalpha1antitrypsingeneticvariants AT porchetnicole descriptionof22newalpha1antitrypsingeneticvariants AT chapuiscelliercolette descriptionof22newalpha1antitrypsingeneticvariants AT balduyckmalika descriptionof22newalpha1antitrypsingeneticvariants AT jolyphilippe descriptionof22newalpha1antitrypsingeneticvariants |