Application of a diagnostic algorithm for the rare deficient variant Mmalton of alpha-1-antitrypsin deficiency: a new approach
Alpha-1-antitrypsin deficiency (AATD) is associated with a high risk for the development of early-onset emphysema and liver disease. A large majority of subjects with severe AATD carry the ZZ genotype, which can be easily detected. Another rare pathologic variant, the Mmalton allele, causes a defici...
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| Vydáno v: | International journal of chronic obstructive pulmonary disease Ročník 11; číslo 1; s. 2535 - 2541 |
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| Médium: | Journal Article |
| Jazyk: | angličtina |
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New Zealand
Dove Medical Press Limited
01.01.2016
Dove Medical Press Ltd Dove Medical Press |
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| ISSN: | 1178-2005, 1176-9106, 1178-2005 |
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| Abstract | Alpha-1-antitrypsin deficiency (AATD) is associated with a high risk for the development of early-onset emphysema and liver disease. A large majority of subjects with severe AATD carry the ZZ genotype, which can be easily detected. Another rare pathologic variant, the Mmalton allele, causes a deficiency similar to that of the Z variant, but it is not easily recognizable and its detection seems to be underestimated. Therefore, we have included a rapid allele-specific genotyping assay for the detection of the Mmalton variant in the diagnostic algorithm of AATD used in our laboratory. The objective of this study was to test the usefulness of this new algorithm for Mmalton detection.
We performed a retrospective revision of all AATD determinations carried out in our laboratory over 2 years using the new diagnostic algorithm. Samples with a phenotype showing one or two M alleles and AAT levels discordant with that phenotype were analyzed using the Mmalton allele-specific genotyping assay.
We detected 49 samples with discordant AAT levels; 44 had the MM and five the MS phenotype. In nine of these samples, a single rare Mmalton variant was detected. During the study period, two family screenings were performed and four additional Mmalton variants were identified.
The incorporation of the Mmalton allele-specific genotyping assay in the diagnostic algorithm of AATD resulted in a faster and cheaper method to detect this allele and avoided a significant delay in diagnosis when a sequencing assay was required. This methodology can be adapted to other rare variants. Standardized algorithms are required to obtain conclusive data of the real incidence of rare AAT alleles in each region. |
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| AbstractList | Alpha-1-antitrypsin deficiency (AATD) is associated with a high risk for the development of early-onset emphysema and liver disease. A large majority of subjects with severe AATD carry the ZZ genotype, which can be easily detected. Another rare pathologic variant, the Mmalton allele, causes a deficiency similar to that of the Z variant, but it is not easily recognizable and its detection seems to be underestimated. Therefore, we have included a rapid allele-specific genotyping assay for the detection of the Mmalton variant in the diagnostic algorithm of AATD used in our laboratory. The objective of this study was to test the usefulness of this new algorithm for Mmalton detection.BACKGROUND AND OBJECTIVESAlpha-1-antitrypsin deficiency (AATD) is associated with a high risk for the development of early-onset emphysema and liver disease. A large majority of subjects with severe AATD carry the ZZ genotype, which can be easily detected. Another rare pathologic variant, the Mmalton allele, causes a deficiency similar to that of the Z variant, but it is not easily recognizable and its detection seems to be underestimated. Therefore, we have included a rapid allele-specific genotyping assay for the detection of the Mmalton variant in the diagnostic algorithm of AATD used in our laboratory. The objective of this study was to test the usefulness of this new algorithm for Mmalton detection.We performed a retrospective revision of all AATD determinations carried out in our laboratory over 2 years using the new diagnostic algorithm. Samples with a phenotype showing one or two M alleles and AAT levels discordant with that phenotype were analyzed using the Mmalton allele-specific genotyping assay.MATERIALS AND METHODSWe performed a retrospective revision of all AATD determinations carried out in our laboratory over 2 years using the new diagnostic algorithm. Samples with a phenotype showing one or two M alleles and AAT levels discordant with that phenotype were analyzed using the Mmalton allele-specific genotyping assay.We detected 49 samples with discordant AAT levels; 44 had the MM and five the MS phenotype. In nine of these samples, a single rare Mmalton variant was detected. During the study period, two family screenings were performed and four additional Mmalton variants were identified.RESULTSWe detected 49 samples with discordant AAT levels; 44 had the MM and five the MS phenotype. In nine of these samples, a single rare Mmalton variant was detected. During the study period, two family screenings were performed and four additional Mmalton variants were identified.The incorporation of the Mmalton allele-specific genotyping assay in the diagnostic algorithm of AATD resulted in a faster and cheaper method to detect this allele and avoided a significant delay in diagnosis when a sequencing assay was required. This methodology can be adapted to other rare variants. Standardized algorithms are required to obtain conclusive data of the real incidence of rare AAT alleles in each region.CONCLUSIONThe incorporation of the Mmalton allele-specific genotyping assay in the diagnostic algorithm of AATD resulted in a faster and cheaper method to detect this allele and avoided a significant delay in diagnosis when a sequencing assay was required. This methodology can be adapted to other rare variants. Standardized algorithms are required to obtain conclusive data of the real incidence of rare AAT alleles in each region. Background and objectives: Alpha-1-antitrypsin deficiency (AATD) is associated with a high risk for the development of early-onset emphysema and liver disease. A large majority of subjects with severe AATD carry the ZZ genotype, which can be easily detected. Another rare pathologic variant, the Mmalton allele, causes a deficiency similar to that of the Z variant, but it is not easily recognizable and its detection seems to be underestimated. Therefore, we have included a rapid allele-specific genotyping assay for the detection of the Mmalton variant in the diagnostic algorithm of AATD used in our laboratory. The objective of this study was to test the usefulness of this new algorithm for Mmalton detection. Materials and methods: We performed a retrospective revision of all AATD determinations carried out in our laboratory over 2 years using the new diagnostic algorithm. Samples with a phenotype showing one or two M alleles and AAT levels discordant with that phenotype were analyzed using the Mmalton allele-specific genotyping assay. Results: We detected 49 samples with discordant AAT levels; 44 had the MM and five the MS phenotype. In nine of these samples, a single rare Mmalton variant was detected. During the study period, two family screenings were performed and four additional Mmalton variants were identified. Conclusion: The incorporation of the Mmalton allele-specific genotyping assay in the diagnostic algorithm of AATD resulted in a faster and cheaper method to detect this allele and avoided a significant delay in diagnosis when a sequencing assay was required. This methodology can be adapted to other rare variants. Standardized algorithms are required to obtain conclusive data of the real incidence of rare AAT alleles in each region. Irene Belmonte,1,2 Miriam Barrecheguren,3 Rosa M López-Martínez,4 Cristina Esquinas,3 Esther Rodríguez,3,5 Marc Miravitlles,3,5 Francisco Rodríguez-Frías1,6 1Liver Pathology Unit, Department of Biochemistry and Microbiology, Hospital Universitari Vall d´Hebron, Universitat Autònoma de Barcelona (UAB), Barcelona, Spain; 2Vall d´Hebron Institut de Recerca (VHIR), Barcelona, Spain; 3Pneumology Department, Hospital Universitari Vall d'Hebron, Barcelona, Spain; 4Biochemistry Department, Hospital Universitari Vall d'Hebron, Barcelona, Spain; 5CIBER of Respiratory Diseases, Barcelona, Spain; 6CIBER of Liver and Digestive Diseases, Instituto Nacional de Salud Carlos III, Madrid, Spain Background and objectives: Alpha-1-antitrypsin deficiency (AATD) is associated with a high risk for the development of early-onset emphysema and liver disease. A large majority of subjects with severe AATD carry the ZZ genotype, which can be easily detected. Another rare pathologic variant, the Mmalton allele, causes a deficiency similar to that of the Z variant, but it is not easily recognizable and its detection seems to be underestimated. Therefore, we have included a rapid allele-specific genotyping assay for the detection of the Mmalton variant in the diagnostic algorithm of AATD used in our laboratory. The objective of this study was to test the usefulness of this new algorithm for Mmalton detection. Materials and methods: We performed a retrospective revision of all AATD determinations carried out in our laboratory over 2years using the new diagnostic algorithm. Samples with a phenotype showing one or two M alleles and AAT levels discordant with that phenotype were analyzed using the Mmalton allele-specific genotyping assay. Results: We detected 49 samples with discordant AAT levels; 44 had the MM and five the MS phenotype. In nine of these samples, a single rare Mmalton variant was detected. During the study period, two family screenings were performed and four additional Mmalton variants were identified. Conclusion: The incorporation of the Mmalton allele-specific genotyping assay in the diagnostic algorithm of AATD resulted in a faster and cheaper method to detect this allele and avoided a significant delay in diagnosis when a sequencing assay was required. This methodology can be adapted to other rare variants. Standardized algorithms are required to obtain conclusive data of the real incidence of rare AAT alleles in each region. Keywords: rare variant, emphysema, genotyping, phenotyping, serum levels Alpha-1-antitrypsin deficiency (AATD) is associated with a high risk for the development of early-onset emphysema and liver disease. A large majority of subjects with severe AATD carry the ZZ genotype, which can be easily detected. Another rare pathologic variant, the Mmalton allele, causes a deficiency similar to that of the Z variant, but it is not easily recognizable and its detection seems to be underestimated. Therefore, we have included a rapid allele-specific genotyping assay for the detection of the Mmalton variant in the diagnostic algorithm of AATD used in our laboratory. The objective of this study was to test the usefulness of this new algorithm for Mmalton detection. We performed a retrospective revision of all AATD determinations carried out in our laboratory over 2 years using the new diagnostic algorithm. Samples with a phenotype showing one or two M alleles and AAT levels discordant with that phenotype were analyzed using the Mmalton allele-specific genotyping assay. We detected 49 samples with discordant AAT levels; 44 had the MM and five the MS phenotype. In nine of these samples, a single rare Mmalton variant was detected. During the study period, two family screenings were performed and four additional Mmalton variants were identified. The incorporation of the Mmalton allele-specific genotyping assay in the diagnostic algorithm of AATD resulted in a faster and cheaper method to detect this allele and avoided a significant delay in diagnosis when a sequencing assay was required. This methodology can be adapted to other rare variants. Standardized algorithms are required to obtain conclusive data of the real incidence of rare AAT alleles in each region. |
| Audience | Academic |
| Author | Rodríguez, Esther Barrecheguren, Miriam López-Martínez, Rosa M Miravitlles, Marc Esquinas, Cristina Rodríguez-Frias, Francisco Belmonte, Irene |
| AuthorAffiliation | 6 CIBER of Liver and Digestive Diseases, Instituto Nacional de Salud Carlos III, Madrid, Spain 4 Biochemistry Department, Hospital Universitari Vall d’Hebron, Barcelona, Spain 3 Pneumology Department, Hospital Universitari Vall d’Hebron, Barcelona, Spain 5 CIBER of Respiratory Diseases, Barcelona, Spain 1 Liver Pathology Unit, Department of Biochemistry and Microbiology, Hospital Universitari Vall d’Hebron, Universitat Autònoma de Barcelona (UAB), Barcelona, Spain 2 Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain |
| AuthorAffiliation_xml | – name: 4 Biochemistry Department, Hospital Universitari Vall d’Hebron, Barcelona, Spain – name: 6 CIBER of Liver and Digestive Diseases, Instituto Nacional de Salud Carlos III, Madrid, Spain – name: 3 Pneumology Department, Hospital Universitari Vall d’Hebron, Barcelona, Spain – name: 1 Liver Pathology Unit, Department of Biochemistry and Microbiology, Hospital Universitari Vall d’Hebron, Universitat Autònoma de Barcelona (UAB), Barcelona, Spain – name: 5 CIBER of Respiratory Diseases, Barcelona, Spain – name: 2 Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain |
| Author_xml | – sequence: 1 givenname: Irene surname: Belmonte fullname: Belmonte, Irene – sequence: 2 givenname: Miriam surname: Barrecheguren fullname: Barrecheguren, Miriam – sequence: 3 givenname: Rosa M surname: López-Martínez fullname: López-Martínez, Rosa M – sequence: 4 givenname: Cristina surname: Esquinas fullname: Esquinas, Cristina – sequence: 5 givenname: Esther surname: Rodríguez fullname: Rodríguez, Esther – sequence: 6 givenname: Marc surname: Miravitlles fullname: Miravitlles, Marc – sequence: 7 givenname: Francisco surname: Rodríguez-Frias fullname: Rodríguez-Frias, Francisco |
| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/27877030$$D View this record in MEDLINE/PubMed |
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| CitedBy_id | crossref_primary_10_1016_j_arbres_2017_10_006 crossref_primary_10_1080_02770903_2021_1944186 crossref_primary_10_1111_ijd_14012 crossref_primary_10_1165_rcmb_2017_0179OC crossref_primary_10_3390_arm92010001 crossref_primary_10_1016_j_pulmoe_2020_06_013 crossref_primary_10_1016_j_arbr_2017_10_018 crossref_primary_10_1515_cclm_2016_0842 |
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| Copyright | COPYRIGHT 2016 Dove Medical Press Limited 2016. This work is licensed under https://creativecommons.org/licenses/by-nc/3.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. cc-by-nc (c) Belmonte, Irene et al., 2016 info:eu-repo/semantics/openAccess http://creativecommons.org/licenses/by-nc/3.0/es 2016 Belmonte et al. This work is published and licensed by Dove Medical Press Limited 2016 |
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| Keywords | serum levels phenotyping rare variant genotyping emphysema |
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| Snippet | Alpha-1-antitrypsin deficiency (AATD) is associated with a high risk for the development of early-onset emphysema and liver disease. A large majority of... Background and objectives: Alpha-1-antitrypsin deficiency (AATD) is associated with a high risk for the development of early-onset emphysema and liver disease.... Background and objectives: alpha-1-antitrypsin deficiency (AATD) is associated with a high risk for the development of early-onset emphysema and liver disease.... Irene Belmonte,1,2 Miriam Barrecheguren,3 Rosa M López-Martínez,4 Cristina Esquinas,3 Esther Rodríguez,3,5 Marc Miravitlles,3,5 Francisco Rodríguez-Frías1,6... |
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| SubjectTerms | Algorithms alpha 1-Antitrypsin - blood alpha 1-Antitrypsin - genetics alpha 1-Antitrypsin Deficiency - blood alpha 1-Antitrypsin Deficiency - diagnosis alpha 1-Antitrypsin Deficiency - enzymology alpha 1-Antitrypsin Deficiency - genetics Chronic obstructive pulmonary diseases Diagnosis Diagnòstic DNA Mutational Analysis - methods emphysema Errors congènits del metabolisme Fenotip Fluorescence Gene Frequency Genetic Markers Genetic Predisposition to Disease Genotype & phenotype genotyping Humans Inborn errors of metabolism Malalties pulmonars obstructives cròniques Medical laboratories Mutation Original Research Phenotype phenotyping Predictive Value of Tests rare variant Real-Time Polymerase Chain Reaction Reproducibility of Results Retrospective Studies Serum serum levels Spain Sèrum |
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| Title | Application of a diagnostic algorithm for the rare deficient variant Mmalton of alpha-1-antitrypsin deficiency: a new approach |
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