A new ENG mutation in a Japanese family with hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations

A new ENG mutation in a Japanese family with hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations

We present a case series of four siblings with hereditary hemorrhagic telangiectasia (HHT) and pulmonary arteriovenous malformations (PAVM). The patients' mother has HHT. Case 1: A 22-year-old man developed dyspnea and epistaxis. CT revealed a large PAVM, treated by segmentectomy. Case 2: A 27-...

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Main Authors: Keiki Yokoo, Gen Yamada, Hirofumi Chiba, Aki Ishikawa, Hiroko Morisaki, Hiroshi Saijo, Sayaka Kudoh, Yasuo Kitamura, Naoki Hirokawa, Masahiro Miyajima, Atsushi Watanabe, Hiroki Takahashi
Format: Article
Language:English
Published: Elsevier 2018-01-01
Series:Respiratory Medicine Case Reports
Online Access:http://www.sciencedirect.com/science/article/pii/S2213007118301266
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spelling doaj-dbcfd87c9c1b4100acf5a9f84b7adbda2020-11-25T01:01:28ZengElsevierRespiratory Medicine Case Reports2213-00712018-01-01257377A new ENG mutation in a Japanese family with hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformationsKeiki Yokoo0Gen Yamada1Hirofumi Chiba2Aki Ishikawa3Hiroko Morisaki4Hiroshi Saijo5Sayaka Kudoh6Yasuo Kitamura7Naoki Hirokawa8Masahiro Miyajima9Atsushi Watanabe10Hiroki Takahashi11Department of Respiratory Medicine, Teine Keijinkai Hospital, Japan; Corresponding author. Department of Respiratory Medicine, Teine Keijinkai Hospital, Teine-ku, Maeda 1-12, Sapporo 006-0811, Japan. Tel.: +81 11 681 8111.Department of Respiratory Medicine, Teine Keijinkai Hospital, JapanDepartment of Respiratory Medicine and Allergology, Sapporo Medical University, JapanDepartment of Medical Genetics, Sapporo Medical University, JapanDepartment of Medical Genetics, Sakakibara Heart Institute, Japan (Formerly, Department of Bioscience and Genetics, National Cerebral and Cardiovascular Center Research Institute), JapanDepartment of Respiratory Medicine and Allergology, Sapporo Medical University, JapanDepartment of Respiratory Medicine, Kushiro City General Hospital, JapanDepartment of Respiratory Medicine, Kushiro City General Hospital, JapanDepartment of Radiology, Sapporo Medical University, JapanDepartment of Respiratory Surgery, Sapporo Medical University, JapanDepartment of Respiratory Surgery, Sapporo Medical University, JapanDepartment of Respiratory Medicine and Allergology, Sapporo Medical University, JapanWe present a case series of four siblings with hereditary hemorrhagic telangiectasia (HHT) and pulmonary arteriovenous malformations (PAVM). The patients' mother has HHT. Case 1: A 22-year-old man developed dyspnea and epistaxis. CT revealed a large PAVM, treated by segmentectomy. Case 2: A 27-year-old woman developed epistaxis and dyspnea. CT revealed three PAVMs, treated by partial resection. Case 3: A 20-year-old woman developed dyspnea. CT revealed multiple PAVMs, treated with endovascular occlusion of the largest one. Case 4: A 12-year-old woman developed epistaxis. CT revealed multiple PAVMs, observed without treatment. Genetic testing identified a new mutation, ENG c.1517T>C (p.Leu506Pro), in all patients and their mother. We suspect that HHT in these patients may be associated with this ENG mutation. Keywords: Hereditary hemorrhagic telangiectasia, Osler-Weber-Rendu disease, Pulmonary arteriovenous malformationhttp://www.sciencedirect.com/science/article/pii/S2213007118301266
collection DOAJ
language English
format Article
sources DOAJ
author Keiki Yokoo
Gen Yamada
Hirofumi Chiba
Aki Ishikawa
Hiroko Morisaki
Hiroshi Saijo
Sayaka Kudoh
Yasuo Kitamura
Naoki Hirokawa
Masahiro Miyajima
Atsushi Watanabe
Hiroki Takahashi
spellingShingle Keiki Yokoo
Gen Yamada
Hirofumi Chiba
Aki Ishikawa
Hiroko Morisaki
Hiroshi Saijo
Sayaka Kudoh
Yasuo Kitamura
Naoki Hirokawa
Masahiro Miyajima
Atsushi Watanabe
Hiroki Takahashi
A new ENG mutation in a Japanese family with hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations
Respiratory Medicine Case Reports
author_facet Keiki Yokoo
Gen Yamada
Hirofumi Chiba
Aki Ishikawa
Hiroko Morisaki
Hiroshi Saijo
Sayaka Kudoh
Yasuo Kitamura
Naoki Hirokawa
Masahiro Miyajima
Atsushi Watanabe
Hiroki Takahashi
author_sort Keiki Yokoo
title A new ENG mutation in a Japanese family with hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations
title_short A new ENG mutation in a Japanese family with hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations
title_full A new ENG mutation in a Japanese family with hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations
title_fullStr A new ENG mutation in a Japanese family with hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations
title_full_unstemmed A new ENG mutation in a Japanese family with hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations
title_sort new eng mutation in a japanese family with hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations
publisher Elsevier
series Respiratory Medicine Case Reports
issn 2213-0071
publishDate 2018-01-01
description We present a case series of four siblings with hereditary hemorrhagic telangiectasia (HHT) and pulmonary arteriovenous malformations (PAVM). The patients' mother has HHT. Case 1: A 22-year-old man developed dyspnea and epistaxis. CT revealed a large PAVM, treated by segmentectomy. Case 2: A 27-year-old woman developed epistaxis and dyspnea. CT revealed three PAVMs, treated by partial resection. Case 3: A 20-year-old woman developed dyspnea. CT revealed multiple PAVMs, treated with endovascular occlusion of the largest one. Case 4: A 12-year-old woman developed epistaxis. CT revealed multiple PAVMs, observed without treatment. Genetic testing identified a new mutation, ENG c.1517T>C (p.Leu506Pro), in all patients and their mother. We suspect that HHT in these patients may be associated with this ENG mutation. Keywords: Hereditary hemorrhagic telangiectasia, Osler-Weber-Rendu disease, Pulmonary arteriovenous malformation
url http://www.sciencedirect.com/science/article/pii/S2213007118301266
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