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Application of Whole Exome Sequencing and Functional Annotations to Identify Genetic Variants Associated with Marfan Syndrome
Marfan syndrome (MFS) is a rare disease that affects connective tissue, which causes abnormalities in several organ systems including the heart, eyes, bones, and joints. The autosomal dominant disorder was found to be strongly associated with FBN1, TGFBR1, and TGFBR2 mutations. Although multiple gen...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8878617/ https://www.ncbi.nlm.nih.gov/pubmed/35207686 http://dx.doi.org/10.3390/jpm12020198 |
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author | Lin, Min-Rou Chang, Che-Mai Ting, Jafit Chang, Jan-Gowth Chou, Wan-Hsuan Huang, Kuei-Jung Cheng, Gloria Chang, Hsiao-Huang Chang, Wei-Chiao |
author_facet | Lin, Min-Rou Chang, Che-Mai Ting, Jafit Chang, Jan-Gowth Chou, Wan-Hsuan Huang, Kuei-Jung Cheng, Gloria Chang, Hsiao-Huang Chang, Wei-Chiao |
author_sort | Lin, Min-Rou |
collection | PubMed |
description | Marfan syndrome (MFS) is a rare disease that affects connective tissue, which causes abnormalities in several organ systems including the heart, eyes, bones, and joints. The autosomal dominant disorder was found to be strongly associated with FBN1, TGFBR1, and TGFBR2 mutations. Although multiple genetic mutations have been reported, data from Asian populations are still limited. As a result, we utilized the whole exome sequencing (WES) technique to identify potential pathogenic variants of MFS in a Taiwan cohort. In addition, a variety of annotation databases were applied to identify the biological functions as well as the potential mechanisms of candidate genes. In this study, we confirmed the pathogenicity of FBN1 to MFS. Our results indicated that TTN and POMT1 may be likely related to MFS phenotypes. Furthermore, we found nine unique variants highly shared in a MFS family cohort, of which eight are novel variants worthy of further investigation. |
format | Online Article Text |
id | pubmed-8878617 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-88786172022-02-26 Application of Whole Exome Sequencing and Functional Annotations to Identify Genetic Variants Associated with Marfan Syndrome Lin, Min-Rou Chang, Che-Mai Ting, Jafit Chang, Jan-Gowth Chou, Wan-Hsuan Huang, Kuei-Jung Cheng, Gloria Chang, Hsiao-Huang Chang, Wei-Chiao J Pers Med Article Marfan syndrome (MFS) is a rare disease that affects connective tissue, which causes abnormalities in several organ systems including the heart, eyes, bones, and joints. The autosomal dominant disorder was found to be strongly associated with FBN1, TGFBR1, and TGFBR2 mutations. Although multiple genetic mutations have been reported, data from Asian populations are still limited. As a result, we utilized the whole exome sequencing (WES) technique to identify potential pathogenic variants of MFS in a Taiwan cohort. In addition, a variety of annotation databases were applied to identify the biological functions as well as the potential mechanisms of candidate genes. In this study, we confirmed the pathogenicity of FBN1 to MFS. Our results indicated that TTN and POMT1 may be likely related to MFS phenotypes. Furthermore, we found nine unique variants highly shared in a MFS family cohort, of which eight are novel variants worthy of further investigation. MDPI 2022-02-01 /pmc/articles/PMC8878617/ /pubmed/35207686 http://dx.doi.org/10.3390/jpm12020198 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Article Lin, Min-Rou Chang, Che-Mai Ting, Jafit Chang, Jan-Gowth Chou, Wan-Hsuan Huang, Kuei-Jung Cheng, Gloria Chang, Hsiao-Huang Chang, Wei-Chiao Application of Whole Exome Sequencing and Functional Annotations to Identify Genetic Variants Associated with Marfan Syndrome |
title | Application of Whole Exome Sequencing and Functional Annotations to Identify Genetic Variants Associated with Marfan Syndrome |
title_full | Application of Whole Exome Sequencing and Functional Annotations to Identify Genetic Variants Associated with Marfan Syndrome |
title_fullStr | Application of Whole Exome Sequencing and Functional Annotations to Identify Genetic Variants Associated with Marfan Syndrome |
title_full_unstemmed | Application of Whole Exome Sequencing and Functional Annotations to Identify Genetic Variants Associated with Marfan Syndrome |
title_short | Application of Whole Exome Sequencing and Functional Annotations to Identify Genetic Variants Associated with Marfan Syndrome |
title_sort | application of whole exome sequencing and functional annotations to identify genetic variants associated with marfan syndrome |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8878617/ https://www.ncbi.nlm.nih.gov/pubmed/35207686 http://dx.doi.org/10.3390/jpm12020198 |
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