Novel mutation in ENG gene causing Hereditary Hemorrhagic Telangiectasia in a Peruvian family
| Autor: | Ana Protzel, Ada Chávez-Gil, María Luisa Guevara-Fujita, Luis Venegas-Tresierra, Milagros M. Dueñas-Roque, Alexis Murillo, Verónica Ángeles-Villalba, Alejandro Zevallos-Morales, Ricardo Fujita, Miguel Guevara-Cruz |
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| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
0106 biological sciences
0301 basic medicine Telangiectasia hemorrágica hereditaria QH426-470 Biology 01 natural sciences 03 medical and health sciences Exon Perú Genetics medicine Missense mutation Normal protein Telangiectasia Molecular Biology Gene Hereditary Hemorrhagic Telangiectasia Mutación ACVRL1 gene ENG 030104 developmental biology Human and Medical Genetics Mutation (genetic algorithm) Familia medicine.symptom Osler-Weber-Rendu disease Novel mutation 010606 plant biology & botany |
| Zdroj: | Repositorio Académico USMP Universidad San Martín de Porres-USMP USMP-Institucional Universidad de San Martín de Porres instacron:USMP Genetics and Molecular Biology Genetics and Molecular Biology, Volume: 43, Issue: 1, Article number: e20190126, Published: 27 FEB 2020 Genetics and Molecular Biology, Vol 43, Iss 1 (2020) |
| Popis: | Hereditary Hemorrhagic Telangiectasia (HHT) is a rare disorder of vascular development. Common manifestations include epistaxis, telangiectasias and arteriovenous malformations (AVMs) in multiple organs. Most patients have deletions or missense mutations in the ENG or ACVRL1 gene respectively, significantly affecting endothelium homeostasis. We analyzed the ENG gene in five members of a Peruvian family affected by HHT. One novel mutation was found in exon four of the ENG gene c.408delA, at aminoacid residue 136. This mutation changes the subsequent reading frame producing an early stop at residue 162, preserving only one fourth of the normal protein of 658 aa. This mutation was found in the four affected members of family. |
| Databáze: | OpenAIRE |
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