Zevallos-Morales Alejandro, Murillo Alexis, Dueñas-Roque Milagros M, Prötzel Ana, Venegas-Tresierra Luis, Ángeles-Villalba Verónica, Guevara-Cruz Miguel, Chávez-Gil Ada, Fujita Ricardo, Guevara-Fujita Maria L
Universidad de San Martín de Porres, Facultad de Medicina Humana, Centro de Genética y Biología Molecular, Lima, Peru.
Hospital Nacional Edgardo Rebagliati Martins, EsSalud, Lima, Peru.
Genet Mol Biol. 2020 Feb 27;43(1):e20190126. doi: 10.1590/1678-4685-GMB-2019-0126. eCollection 2020.
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.
遗传性出血性毛细血管扩张症（HHT）是一种罕见的血管发育障碍疾病。常见表现包括鼻出血、毛细血管扩张以及多器官的动静脉畸形（AVM）。大多数患者分别在ENG或ACVRL1基因中存在缺失或错义突变，这显著影响了内皮细胞的稳态。我们对一个受HHT影响的秘鲁家族的五名成员的ENG基因进行了分析。在ENG基因的外显子4中发现了一个新的突变，即c.408delA，位于氨基酸残基136处。该突变改变了后续的阅读框，导致在残基162处提前终止，仅保留了正常658个氨基酸蛋白质的四分之一。这个突变在该家族的四名患病成员中被发现。
