De Novo or inherited
Hereditary angioedema (HAE) is a rare genetic disease, characterized by transient and self-limiting episodes of subcutaneous or submucosal swelling that spontaneously resolve within two to five days. The most common form of HAE, HAE-C1-INH, is caused by deleterious mutations in the SERPING1 gene, en...
| Autores: | , , , , , , , |
|---|---|
| Tipo de recurso: | artículo |
| Fecha de publicación: | 2025 |
| País: | España |
| Institución: | Universitat Autònoma de Barcelona |
| Repositorio: | Dipòsit Digital de Documents de la UAB |
| Idioma: | inglés |
| OAI Identifier: | oai:ddd.uab.cat:319417 |
| Acceso en línea: | https://ddd.uab.cat/record/319417 https://dx.doi.org/urn:doi:10.3389/fimmu.2025.1550380 |
| Access Level: | acceso abierto |
| Palabra clave: | Hereditary angioedema C1 inhibitor deficiency SERPING1 Somatic variant Gonosomal mosaicism Genetic counseling |
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De Novo or inheritedgonosomal mosaicism in hereditary angioedema due to C1 inhibitor deficiencyBatlle-Masó, Laura|||0000-0002-4209-176XPerurena Prieto, Janire|||0000-0002-3048-1058Viñas-Giménez, Laura|||0000-0003-2913-1154Aguiló-Cucurull, Aina|||0000-0001-5622-778XFernández-Álvarez, Paula|||0000-0003-2695-3531Gil-Serrano, Johana|||0000-0002-0673-7391Guilarte, Mar|||0000-0001-7242-9584Colobrán Oriol, Roger|||0000-0002-5964-536XHereditary angioedemaC1 inhibitor deficiencySERPING1Somatic variantGonosomal mosaicismGenetic counselingHereditary angioedema (HAE) is a rare genetic disease, characterized by transient and self-limiting episodes of subcutaneous or submucosal swelling that spontaneously resolve within two to five days. The most common form of HAE, HAE-C1-INH, is caused by deleterious mutations in the SERPING1 gene, encoding the C1-Inhibitor protein, and its diagnosis is confirmed by decreased C1-INH function. Distinctively from other genetic forms of HAE, up to 15-20% of HAE-C1-INH cases are sporadic caused by de novo mutations. Here, we report a patient with apparently sporadic HAE-C1-INH. The patient had compatible clinical symptoms and a markedly low C1-INH function, and the parents showed normal values of C4 and normal C1-INH function. In the patient, we identified a novel splice site mutation in SERPING1 (c.890-1G. 22025-01-0120252025-01-01Articlehttp://purl.org/coar/resource_type/c_6501VoRhttp://purl.org/coar/version/c_970fb48d4fbd8a85info:eu-repo/semantics/articleapplication/pdfhttps://ddd.uab.cat/record/319417https://dx.doi.org/urn:doi:10.3389/fimmu.2025.1550380reponame:Dipòsit Digital de Documents de la UABinstname:Universitat Autònoma de BarcelonaInglésengInstituto de Salud Carlos III https://doi.org/10.13039/501100004587 PI20/00761Instituto de Salud Carlos III https://doi.org/10.13039/501100004587 PI23/00161open accesshttp://purl.org/coar/access_right/c_abf2Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.https://creativecommons.org/licenses/by/4.0/info:eu-repo/semantics/openAccessoai:ddd.uab.cat:3194172026-06-06T12:50:31Z |
| dc.title.none.fl_str_mv |
De Novo or inherited gonosomal mosaicism in hereditary angioedema due to C1 inhibitor deficiency |
| title |
De Novo or inherited |
| spellingShingle |
De Novo or inherited Batlle-Masó, Laura|||0000-0002-4209-176X Hereditary angioedema C1 inhibitor deficiency SERPING1 Somatic variant Gonosomal mosaicism Genetic counseling |
| title_short |
De Novo or inherited |
| title_full |
De Novo or inherited |
| title_fullStr |
De Novo or inherited |
| title_full_unstemmed |
De Novo or inherited |
| title_sort |
De Novo or inherited |
| dc.creator.none.fl_str_mv |
Batlle-Masó, Laura|||0000-0002-4209-176X Perurena Prieto, Janire|||0000-0002-3048-1058 Viñas-Giménez, Laura|||0000-0003-2913-1154 Aguiló-Cucurull, Aina|||0000-0001-5622-778X Fernández-Álvarez, Paula|||0000-0003-2695-3531 Gil-Serrano, Johana|||0000-0002-0673-7391 Guilarte, Mar|||0000-0001-7242-9584 Colobrán Oriol, Roger|||0000-0002-5964-536X |
| author |
Batlle-Masó, Laura|||0000-0002-4209-176X |
| author_facet |
Batlle-Masó, Laura|||0000-0002-4209-176X Perurena Prieto, Janire|||0000-0002-3048-1058 Viñas-Giménez, Laura|||0000-0003-2913-1154 Aguiló-Cucurull, Aina|||0000-0001-5622-778X Fernández-Álvarez, Paula|||0000-0003-2695-3531 Gil-Serrano, Johana|||0000-0002-0673-7391 Guilarte, Mar|||0000-0001-7242-9584 Colobrán Oriol, Roger|||0000-0002-5964-536X |
| author_role |
author |
| author2 |
Perurena Prieto, Janire|||0000-0002-3048-1058 Viñas-Giménez, Laura|||0000-0003-2913-1154 Aguiló-Cucurull, Aina|||0000-0001-5622-778X Fernández-Álvarez, Paula|||0000-0003-2695-3531 Gil-Serrano, Johana|||0000-0002-0673-7391 Guilarte, Mar|||0000-0001-7242-9584 Colobrán Oriol, Roger|||0000-0002-5964-536X |
| author2_role |
author author author author author author author |
| dc.subject.none.fl_str_mv |
Hereditary angioedema C1 inhibitor deficiency SERPING1 Somatic variant Gonosomal mosaicism Genetic counseling |
| topic |
Hereditary angioedema C1 inhibitor deficiency SERPING1 Somatic variant Gonosomal mosaicism Genetic counseling |
| description |
Hereditary angioedema (HAE) is a rare genetic disease, characterized by transient and self-limiting episodes of subcutaneous or submucosal swelling that spontaneously resolve within two to five days. The most common form of HAE, HAE-C1-INH, is caused by deleterious mutations in the SERPING1 gene, encoding the C1-Inhibitor protein, and its diagnosis is confirmed by decreased C1-INH function. Distinctively from other genetic forms of HAE, up to 15-20% of HAE-C1-INH cases are sporadic caused by de novo mutations. Here, we report a patient with apparently sporadic HAE-C1-INH. The patient had compatible clinical symptoms and a markedly low C1-INH function, and the parents showed normal values of C4 and normal C1-INH function. In the patient, we identified a novel splice site mutation in SERPING1 (c.890-1G. |
| publishDate |
2025 |
| dc.date.none.fl_str_mv |
2 2025-01-01 2025 2025-01-01 |
| dc.type.none.fl_str_mv |
Article http://purl.org/coar/resource_type/c_6501 VoR http://purl.org/coar/version/c_970fb48d4fbd8a85 |
| dc.type.openaire.fl_str_mv |
info:eu-repo/semantics/article |
| format |
article |
| dc.identifier.none.fl_str_mv |
https://ddd.uab.cat/record/319417 https://dx.doi.org/urn:doi:10.3389/fimmu.2025.1550380 |
| url |
https://ddd.uab.cat/record/319417 https://dx.doi.org/urn:doi:10.3389/fimmu.2025.1550380 |
| dc.language.none.fl_str_mv |
Inglés eng |
| language_invalid_str_mv |
Inglés |
| language |
eng |
| dc.relation.none.fl_str_mv |
Instituto de Salud Carlos III https://doi.org/10.13039/501100004587 PI20/00761 Instituto de Salud Carlos III https://doi.org/10.13039/501100004587 PI23/00161 |
| dc.rights.none.fl_str_mv |
open access http://purl.org/coar/access_right/c_abf2 https://creativecommons.org/licenses/by/4.0/ |
| dc.rights.openaire.fl_str_mv |
info:eu-repo/semantics/openAccess |
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open access http://purl.org/coar/access_right/c_abf2 https://creativecommons.org/licenses/by/4.0/ |
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openAccess |
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application/pdf |
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reponame:Dipòsit Digital de Documents de la UAB instname:Universitat Autònoma de Barcelona |
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Universitat Autònoma de Barcelona |
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Dipòsit Digital de Documents de la UAB |
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Dipòsit Digital de Documents de la UAB |
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