التفاصيل البيبلوغرافية
| العنوان: |
Current HHT genetic overview in Spain and its phenotypic correlation: data from RiHHTa registry |
| المؤلفون: |
Sánchez-Martínez, R., Iriarte, A., Mora-Luján, J. M., Patier, J. L., López-Wolf, D., Ojeda, A., Pérez de León, José Antonio, García Morillo, José Salvador |
| المساهمون: |
Universidad de Sevilla. Departamento de Medicina, Health in Code (A Coruna, Spain) |
| بيانات النشر: |
Biomed central LTD |
| سنة النشر: |
2023 |
| المجموعة: |
idUS - Deposito de Investigación Universidad de Sevilla |
| مصطلحات موضوعية: |
Genetic test, Genotype, Hereditary hemorrhagic telangiectasia, Phenotype, Rare diseases |
| الوصف: |
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. |
| نوع الوثيقة: |
article in journal/newspaper |
| اللغة: |
English |
| العلاقة: |
Orphanet journal of rare diseases, 15 (1), 138.; https://ojrd.biomedcentral.com/articles/10.1186/s13023-020-01422-8Test; https://idus.us.es/handle//11441/147973Test |
| الإتاحة: |
https://idus.us.es/handle//11441/147973Test |
| حقوق: |
Atribución 4.0 Internacional ; http://creativecommons.org/licenses/by/4.0Test/ ; info:eu-repo/semantics/openAccess |
| رقم الانضمام: |
edsbas.A8D87E5 |
| قاعدة البيانات: |
BASE |
