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 respective...
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| Format: | Article |
| Language: | English |
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Sociedade Brasileira de Genética
2020-02-01
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| Series: | Genetics and Molecular Biology |
| Subjects: | |
| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000100109&tlng=en |
| _version_ | 1798019946320494592 |
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| author | Alejandro Zevallos-Morales Alexis Murillo Milagros M. Dueñas-Roque Ana Prötzel Luis Venegas-Tresierra Verónica Ángeles-Villalba Miguel Guevara-Cruz Ada Chávez-Gil Ricardo Fujita Maria L. Guevara-Fujita |
| author_facet | Alejandro Zevallos-Morales Alexis Murillo Milagros M. Dueñas-Roque Ana Prötzel Luis Venegas-Tresierra Verónica Ángeles-Villalba Miguel Guevara-Cruz Ada Chávez-Gil Ricardo Fujita Maria L. Guevara-Fujita |
| author_sort | Alejandro Zevallos-Morales |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-11T16:49:54Z |
| format | Article |
| id | doaj.art-5a645b9352d549dbb2382a5638912a93 |
| institution | Directory Open Access Journal |
| issn | 1678-4685 |
| language | English |
| last_indexed | 2024-04-11T16:49:54Z |
| publishDate | 2020-02-01 |
| publisher | Sociedade Brasileira de Genética |
| record_format | Article |
| series | Genetics and Molecular Biology |
| spelling | doaj.art-5a645b9352d549dbb2382a5638912a932022-12-22T04:13:28ZengSociedade Brasileira de GenéticaGenetics and Molecular Biology1678-46852020-02-0143110.1590/1678-4685-gmb-2019-0126Novel mutation in ENG gene causing Hereditary Hemorrhagic Telangiectasia in a Peruvian familyAlejandro Zevallos-Moraleshttps://orcid.org/0000-0002-5314-8469Alexis Murillohttps://orcid.org/0000-0002-7372-2608Milagros M. Dueñas-Roquehttps://orcid.org/0000-0001-8366-8740Ana PrötzelLuis Venegas-TresierraVerónica Ángeles-VillalbaMiguel Guevara-CruzAda Chávez-GilRicardo FujitaMaria L. Guevara-Fujitahttps://orcid.org/0000-0001-5457-231XAbstract 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.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000100109&tlng=enENGHereditary Hemorrhagic TelangiectasiaOsler-Weber-Rendu disease |
| spellingShingle | Alejandro Zevallos-Morales Alexis Murillo Milagros M. Dueñas-Roque Ana Prötzel Luis Venegas-Tresierra Verónica Ángeles-Villalba Miguel Guevara-Cruz Ada Chávez-Gil Ricardo Fujita Maria L. Guevara-Fujita Novel mutation in ENG gene causing Hereditary Hemorrhagic Telangiectasia in a Peruvian family Genetics and Molecular Biology ENG Hereditary Hemorrhagic Telangiectasia Osler-Weber-Rendu disease |
| title | Novel mutation in ENG gene causing Hereditary Hemorrhagic Telangiectasia in a Peruvian family |
| title_full | Novel mutation in ENG gene causing Hereditary Hemorrhagic Telangiectasia in a Peruvian family |
| title_fullStr | Novel mutation in ENG gene causing Hereditary Hemorrhagic Telangiectasia in a Peruvian family |
| title_full_unstemmed | Novel mutation in ENG gene causing Hereditary Hemorrhagic Telangiectasia in a Peruvian family |
| title_short | Novel mutation in ENG gene causing Hereditary Hemorrhagic Telangiectasia in a Peruvian family |
| title_sort | novel mutation in eng gene causing hereditary hemorrhagic telangiectasia in a peruvian family |
| topic | ENG Hereditary Hemorrhagic Telangiectasia Osler-Weber-Rendu disease |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000100109&tlng=en |
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