Novel mutation in ENG gene causing Hereditary Hemorrhagic Telangiectasia in a Peruvian family

Abstract

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.

A Novel Splicing Mutation in the ACVRL1/ALK1 Gene as a Cause of HHT2

“…This work presents a new mutation in ACVRL1/ALK1 as a cause of HHT2, in a large family from Peru, although not all of them have been genetically analyzed. A previous paper [ 17 ] described the presence of a novel mutation found in exon 4 of the ENG gene c.408delA, at amino acid residue 136, found in four affected members of a family from Peru. However, after this report, and to the best of our knowledge, this manuscript reports the results of the largest cohort of HHT ever published in Peru.…”