Genetic Variants and Clinical Phenotypes in Korean Patients With Hereditary Hemorrhagic Telangiectasia

Objectives Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular disorder characterized by recurrent epistaxis, telangiectasia, and visceral arteriovenous malformations (AVMs). Activin A receptor-like type 1 (ACVRL1/ALK1) and endoglin (ENG) are the principal genes whose mutat...

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Autores principales:	Bo-Gyeong Kim, Joo-hyun Jung, Mi-Jung Kim, Eun-Hye Moon, Jae-Hwan Oh, Jung-Woo Park, Heung-Eog Cha, Ju-Hyun Kim, Yoon-Jae Kim, Jun-Won Chung, Ki-Baik Hahm, Hong-Ryul Jin, Yong-Ju Jang, Sung Wan Kim, Seung-Kyu Chung, Dae-Woo Kim, Young Jae Lee, Seon-Tae Kim
Formato:	article
Lenguaje:	EN
Publicado:	Korean Society of Otorhinolaryngology-Head and Neck Surgery 2021
Materias:	hereditary hemorrhagic telangiectasia acvrl1 eng genetic screening Medicine R Otorhinolaryngology RF1-547
Acceso en línea:	https://doaj.org/article/d419a3f8a8564f3faefb9b574f48524e
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spelling	oai:doaj.org-article:d419a3f8a8564f3faefb9b574f48524e2021-11-18T02:29:22ZGenetic Variants and Clinical Phenotypes in Korean Patients With Hereditary Hemorrhagic Telangiectasia1976-87102005-072010.21053/ceo.2020.02124https://doaj.org/article/d419a3f8a8564f3faefb9b574f48524e2021-11-01T00:00:00Zhttp://www.e-ceo.org/upload/pdf/ceo-2020-02124.pdfhttps://doaj.org/toc/1976-8710https://doaj.org/toc/2005-0720Objectives Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular disorder characterized by recurrent epistaxis, telangiectasia, and visceral arteriovenous malformations (AVMs). Activin A receptor-like type 1 (ACVRL1/ALK1) and endoglin (ENG) are the principal genes whose mutations cause HHT. No multicenter study has yet investigated correlations between genetic variations and clinical outcomes in Korean HHT patients. Methods Seventy-two members from 40 families suspected to have HHT based on symptoms were genetically screened for pathogenic variants of ACVRL1 and ENG. Patients with genetically diagnosed HHT were also evaluated. Results In the HHT genetic screening, 42 patients from 24 of the 40 families had genetic variants that met the pathogenic criteria (pathogenic very strong, pathogenic strong, pathogenic moderate, or pathogenic supporting) based on the American College of Medical Genetics and Genomics Standards and Guidelines for either ENG or ACVRL1: 26 from 12 families (50%) for ENG, and 16 from 12 families (50%) for ACVRL1. Diagnostic screening of 42 genetically positive HHT patients based on the Curaçao criteria revealed that 24 patients (57%) were classified as having definite HHT, 17 (41%) as having probable HHT, and 1 (2%) as unlikely to have HHT. Epistaxis was the most common clinical presentation (38/42, 90%), followed by visceral AVMs (24/42, 57%) and telangiectasia (21/42, 50%). Five patients (12%) did not have a family history of HHT clinical symptoms. Conclusion Only approximately half of patients with ACVRL1 or ENG genetic variants could be clinically diagnosed as having definite HHT, suggesting that genetic screening is important to confirm the diagnosis.Bo-Gyeong KimJoo-hyun JungMi-Jung KimEun-Hye MoonJae-Hwan OhJung-Woo ParkHeung-Eog ChaJu-Hyun KimYoon-Jae KimJun-Won ChungKi-Baik HahmHong-Ryul JinYong-Ju JangSung Wan KimSeung-Kyu ChungDae-Woo KimYoung Jae LeeSeon-Tae KimKorean Society of Otorhinolaryngology-Head and Neck Surgeryarticlehereditary hemorrhagic telangiectasiaacvrl1enggenetic screeningMedicineROtorhinolaryngologyRF1-547ENClinical and Experimental Otorhinolaryngology, Vol 14, Iss 4, Pp 399-406 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	hereditary hemorrhagic telangiectasia acvrl1 eng genetic screening Medicine R Otorhinolaryngology RF1-547
spellingShingle	hereditary hemorrhagic telangiectasia acvrl1 eng genetic screening Medicine R Otorhinolaryngology RF1-547 Bo-Gyeong Kim Joo-hyun Jung Mi-Jung Kim Eun-Hye Moon Jae-Hwan Oh Jung-Woo Park Heung-Eog Cha Ju-Hyun Kim Yoon-Jae Kim Jun-Won Chung Ki-Baik Hahm Hong-Ryul Jin Yong-Ju Jang Sung Wan Kim Seung-Kyu Chung Dae-Woo Kim Young Jae Lee Seon-Tae Kim Genetic Variants and Clinical Phenotypes in Korean Patients With Hereditary Hemorrhagic Telangiectasia
description	Objectives Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular disorder characterized by recurrent epistaxis, telangiectasia, and visceral arteriovenous malformations (AVMs). Activin A receptor-like type 1 (ACVRL1/ALK1) and endoglin (ENG) are the principal genes whose mutations cause HHT. No multicenter study has yet investigated correlations between genetic variations and clinical outcomes in Korean HHT patients. Methods Seventy-two members from 40 families suspected to have HHT based on symptoms were genetically screened for pathogenic variants of ACVRL1 and ENG. Patients with genetically diagnosed HHT were also evaluated. Results In the HHT genetic screening, 42 patients from 24 of the 40 families had genetic variants that met the pathogenic criteria (pathogenic very strong, pathogenic strong, pathogenic moderate, or pathogenic supporting) based on the American College of Medical Genetics and Genomics Standards and Guidelines for either ENG or ACVRL1: 26 from 12 families (50%) for ENG, and 16 from 12 families (50%) for ACVRL1. Diagnostic screening of 42 genetically positive HHT patients based on the Curaçao criteria revealed that 24 patients (57%) were classified as having definite HHT, 17 (41%) as having probable HHT, and 1 (2%) as unlikely to have HHT. Epistaxis was the most common clinical presentation (38/42, 90%), followed by visceral AVMs (24/42, 57%) and telangiectasia (21/42, 50%). Five patients (12%) did not have a family history of HHT clinical symptoms. Conclusion Only approximately half of patients with ACVRL1 or ENG genetic variants could be clinically diagnosed as having definite HHT, suggesting that genetic screening is important to confirm the diagnosis.
format	article
author	Bo-Gyeong Kim Joo-hyun Jung Mi-Jung Kim Eun-Hye Moon Jae-Hwan Oh Jung-Woo Park Heung-Eog Cha Ju-Hyun Kim Yoon-Jae Kim Jun-Won Chung Ki-Baik Hahm Hong-Ryul Jin Yong-Ju Jang Sung Wan Kim Seung-Kyu Chung Dae-Woo Kim Young Jae Lee Seon-Tae Kim
author_facet	Bo-Gyeong Kim Joo-hyun Jung Mi-Jung Kim Eun-Hye Moon Jae-Hwan Oh Jung-Woo Park Heung-Eog Cha Ju-Hyun Kim Yoon-Jae Kim Jun-Won Chung Ki-Baik Hahm Hong-Ryul Jin Yong-Ju Jang Sung Wan Kim Seung-Kyu Chung Dae-Woo Kim Young Jae Lee Seon-Tae Kim
author_sort	Bo-Gyeong Kim
title	Genetic Variants and Clinical Phenotypes in Korean Patients With Hereditary Hemorrhagic Telangiectasia
title_short	Genetic Variants and Clinical Phenotypes in Korean Patients With Hereditary Hemorrhagic Telangiectasia
title_full	Genetic Variants and Clinical Phenotypes in Korean Patients With Hereditary Hemorrhagic Telangiectasia
title_fullStr	Genetic Variants and Clinical Phenotypes in Korean Patients With Hereditary Hemorrhagic Telangiectasia
title_full_unstemmed	Genetic Variants and Clinical Phenotypes in Korean Patients With Hereditary Hemorrhagic Telangiectasia
title_sort	genetic variants and clinical phenotypes in korean patients with hereditary hemorrhagic telangiectasia
publisher	Korean Society of Otorhinolaryngology-Head and Neck Surgery
publishDate	2021
url	https://doaj.org/article/d419a3f8a8564f3faefb9b574f48524e
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Genetic Variants and Clinical Phenotypes in Korean Patients With Hereditary Hemorrhagic Telangiectasia

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