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The Genetics of Hereditary Angioedema: A Review

Hereditary angioedema is a rare inherited disorder characterized by recurrent episodes of the accumulation of fluids outside of the blood vessels, causing rapid swelling of tissues in the hands, feet, limbs, face, intestinal tract, or airway. Mutations in SERPING1, the gene that encodes C1-INH (C1 e...

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Autores principales: Santacroce, Rosa, D’Andrea, Giovanna, Maffione, Angela Bruna, Margaglione, Maurizio, d’Apolito, Maria
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8125999/
https://www.ncbi.nlm.nih.gov/pubmed/34065094
http://dx.doi.org/10.3390/jcm10092023
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author Santacroce, Rosa
D’Andrea, Giovanna
Maffione, Angela Bruna
Margaglione, Maurizio
d’Apolito, Maria
author_facet Santacroce, Rosa
D’Andrea, Giovanna
Maffione, Angela Bruna
Margaglione, Maurizio
d’Apolito, Maria
author_sort Santacroce, Rosa
collection PubMed
description Hereditary angioedema is a rare inherited disorder characterized by recurrent episodes of the accumulation of fluids outside of the blood vessels, causing rapid swelling of tissues in the hands, feet, limbs, face, intestinal tract, or airway. Mutations in SERPING1, the gene that encodes C1-INH (C1 esterase inhibitor), are responsible for the majority of cases of hereditary angioedema. C1 esterase inhibitor (C1-INH) is a major regulator of critical enzymes that are implicated in the cascades of bradykinin generation, which increases the vascular permeability and allows the flow of fluids into the extracellular space and results in angioedema. Moreover, a dominantly inherited disease has been described that has a similar clinical picture to C1-INH-HAE (Hereditary angioedema due to C1 inhibitor deficiency), but with normal C1-INH level and activity. This new type of HAE has no mutation in the SERPING1 gene and it is classified as nC1-INH-HAE (HAE with normal C1-INH). Currently mutations in six different genes have been identified as causing nC1-INH-HAE: factor XII (F12), plasminogen (PLG), angiopoietin 1 (ANGPT1), Kininogen 1 (KNG1), Myoferlin (MYOF), and heparan sulfate (HS)-glucosamine 3-O-sulfotransferase 6 (HS3ST6). In this review we aim to summarize the recent advances in genetic characterization of angioedema and possible future prospects in the identification of new genetic defects in HAE. We also provide an overview of diagnostic applications of genetic biomarkers using NGS technologies (Next Generation Sequencing).
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spelling pubmed-81259992021-05-17 The Genetics of Hereditary Angioedema: A Review Santacroce, Rosa D’Andrea, Giovanna Maffione, Angela Bruna Margaglione, Maurizio d’Apolito, Maria J Clin Med Review Hereditary angioedema is a rare inherited disorder characterized by recurrent episodes of the accumulation of fluids outside of the blood vessels, causing rapid swelling of tissues in the hands, feet, limbs, face, intestinal tract, or airway. Mutations in SERPING1, the gene that encodes C1-INH (C1 esterase inhibitor), are responsible for the majority of cases of hereditary angioedema. C1 esterase inhibitor (C1-INH) is a major regulator of critical enzymes that are implicated in the cascades of bradykinin generation, which increases the vascular permeability and allows the flow of fluids into the extracellular space and results in angioedema. Moreover, a dominantly inherited disease has been described that has a similar clinical picture to C1-INH-HAE (Hereditary angioedema due to C1 inhibitor deficiency), but with normal C1-INH level and activity. This new type of HAE has no mutation in the SERPING1 gene and it is classified as nC1-INH-HAE (HAE with normal C1-INH). Currently mutations in six different genes have been identified as causing nC1-INH-HAE: factor XII (F12), plasminogen (PLG), angiopoietin 1 (ANGPT1), Kininogen 1 (KNG1), Myoferlin (MYOF), and heparan sulfate (HS)-glucosamine 3-O-sulfotransferase 6 (HS3ST6). In this review we aim to summarize the recent advances in genetic characterization of angioedema and possible future prospects in the identification of new genetic defects in HAE. We also provide an overview of diagnostic applications of genetic biomarkers using NGS technologies (Next Generation Sequencing). MDPI 2021-05-09 /pmc/articles/PMC8125999/ /pubmed/34065094 http://dx.doi.org/10.3390/jcm10092023 Text en © 2021 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Review
Santacroce, Rosa
D’Andrea, Giovanna
Maffione, Angela Bruna
Margaglione, Maurizio
d’Apolito, Maria
The Genetics of Hereditary Angioedema: A Review
title The Genetics of Hereditary Angioedema: A Review
title_full The Genetics of Hereditary Angioedema: A Review
title_fullStr The Genetics of Hereditary Angioedema: A Review
title_full_unstemmed The Genetics of Hereditary Angioedema: A Review
title_short The Genetics of Hereditary Angioedema: A Review
title_sort genetics of hereditary angioedema: a review
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8125999/
https://www.ncbi.nlm.nih.gov/pubmed/34065094
http://dx.doi.org/10.3390/jcm10092023
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