dc.creator | Sánchez-Martínez, R. | es |
dc.creator | Iriarte, A. | es |
dc.creator | Mora-Luján, J. M. | es |
dc.creator | Patier, J. L. | es |
dc.creator | López-Wolf, D. | es |
dc.creator | Ojeda, A. | es |
dc.creator | Pérez de León, José Antonio | es |
dc.creator | García Morillo, José Salvador | es |
dc.date.accessioned | 2023-07-14T09:30:46Z | |
dc.date.available | 2023-07-14T09:30:46Z | |
dc.date.issued | 2020 | |
dc.identifier.citation | Sánchez-Martínez, R., Iriarte, A., Mora-Luján, J.M., Patier, J.L., López-Wolf, D., Ojeda, A.,...,García Morillo, J.S. (2020). Current HHT genetic overview in Spain and its phenotypic correlation: data from RiHHTa registry. Orphanet journal of rare diseases, 15 (1), 138. https://doi.org/10.1186/s13023-020-01422-8. | |
dc.identifier.issn | 1750-1172 | es |
dc.identifier.uri | https://hdl.handle.net/11441/147973 | |
dc.description.abstract | Background: Hereditary hemorrhagic telangiectasia (HHT) is a rare vascular disease with autosomal dominant inheritance. Disease-causing variants in endoglin (ENG) and activin A receptor type II-like 1 (ACVRL1) genes are detected in more than 90% of cases submitted to molecular diagnosis.
Methods: We used data from the RiHHTa (Computerized Registry of Hereditary Hemorrhagic Telangiectasia) registry to describe genetic variants and to assess their genotype-phenotype correlation among HHT patients in Spain.
Results: By May 2019, 215 patients were included in the RiHHTa registry with a mean age of 52.5 ± 16.5 years and 136 (63.3%) were women. Definitive HHT diagnosis defined by the Curaçao criteria were met by 172 (80%) patients. Among 113 patients with genetic test, 77 (68.1%) showed a genetic variant in ACVRL1 and 36 (31.8%) in ENG gene. The identified genetic variants in ACVRL1 and ENG genes and their clinical significance are provided. ACVRL1 mutations were more frequently nonsense (50%) while ENG mutations were more frequently, frameshift (39.1%). ENG patients were significantly younger at diagnosis (36.9 vs 45.7 years) and had pulmonary arteriovenous malformations (AVMs) (71.4% vs 24.4%) and cerebral AVMs (17.6% vs 2%) more often than patients with ACVRL1 variants. Patients with ACVRL1 variants had a higher cardiac index (2.62 vs 3.46), higher levels of hepatic functional blood tests, and anemia (28.5% vs 56.7%) more often than ENG patients. | es |
dc.format | application/pdf | es |
dc.format.extent | 8 pág. | es |
dc.language.iso | eng | es |
dc.publisher | Biomed central LTD | es |
dc.relation.ispartof | Orphanet journal of rare diseases, 15 (1), 138. | |
dc.rights | Atribución 4.0 Internacional | * |
dc.rights.uri | http://creativecommons.org/licenses/by/4.0/ | * |
dc.subject | Genetic test | es |
dc.subject | Genotype | es |
dc.subject | Hereditary hemorrhagic telangiectasia | es |
dc.subject | Phenotype | es |
dc.subject | Rare diseases | es |
dc.title | Current HHT genetic overview in Spain and its phenotypic correlation: data from RiHHTa registry | es |
dc.type | info:eu-repo/semantics/article | es |
dcterms.identifier | https://ror.org/03yxnpp24 | |
dc.type.version | info:eu-repo/semantics/publishedVersion | es |
dc.rights.accessRights | info:eu-repo/semantics/openAccess | es |
dc.contributor.affiliation | Universidad de Sevilla. Departamento de Medicina | es |
dc.relation.publisherversion | https://ojrd.biomedcentral.com/articles/10.1186/s13023-020-01422-8 | es |
dc.identifier.doi | 10.1186/s13023-020-01422-8 | es |
dc.journaltitle | Orphanet journal of rare diseases | es |
dc.publication.volumen | 15 | es |
dc.publication.issue | 1 | es |
dc.publication.initialPage | 138 | es |
dc.contributor.funder | Health in Code (A Coruna, Spain) | es |