Identification of Novel Causal FBN1 Mutations in Pedigrees of Marfan Syndrome
Marfan syndrome (MFS) is an autosomal dominant genetic disorder of the connective tissue, typically characteristic of cardiovascular manifestations, valve prolapse, left ventricle enlargement, and cardiac failure. Fibrillin-1 (FBN1) is the causative gene in the pathogenesis of MFS. Patients with dif...
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| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2018-01-01
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| Series: | International Journal of Genomics |
| Online Access: | http://dx.doi.org/10.1155/2018/1246516 |
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| author | Yueli Wang Xiaoyan Li Rongjuan Li Ya Yang Jie Du |
| author_facet | Yueli Wang Xiaoyan Li Rongjuan Li Ya Yang Jie Du |
| author_sort | Yueli Wang |
| collection | DOAJ |
| description | Marfan syndrome (MFS) is an autosomal dominant genetic disorder of the connective tissue, typically characteristic of cardiovascular manifestations, valve prolapse, left ventricle enlargement, and cardiac failure. Fibrillin-1 (FBN1) is the causative gene in the pathogenesis of MFS. Patients with different FBN1 mutations often present more considerable phenotypic variation. In the present study, three affected MFS pedigrees were collected for genetic analysis. Using next-generation sequencing (NGS) technologies, 3 novel frameshift pathogenic mutations which are cosegregated with affected subjects in 3 pedigrees were identified. These novel mutations provide important diagnostic and therapeutic insights for precision medicine in MFS, especially regarding the lethal cardiovascular events. |
| format | Article |
| id | doaj-art-fc12604b28b5431bba43bb8462cbf3bf |
| institution | Kabale University |
| issn | 2314-436X 2314-4378 |
| language | English |
| publishDate | 2018-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | International Journal of Genomics |
| spelling | doaj-art-fc12604b28b5431bba43bb8462cbf3bf2025-02-03T01:28:36ZengWileyInternational Journal of Genomics2314-436X2314-43782018-01-01201810.1155/2018/12465161246516Identification of Novel Causal FBN1 Mutations in Pedigrees of Marfan SyndromeYueli Wang0Xiaoyan Li1Rongjuan Li2Ya Yang3Jie Du4Department of Echocardiography, Beijing Anzhen Hospital, Capital Medical University and Beijing Institute of Heart, Lung and Blood Vessel Diseases, Beijing, ChinaDepartment of Echocardiography, Beijing Anzhen Hospital, Capital Medical University and Beijing Institute of Heart, Lung and Blood Vessel Diseases, Beijing, ChinaDepartment of Echocardiography, Beijing Anzhen Hospital, Capital Medical University and Beijing Institute of Heart, Lung and Blood Vessel Diseases, Beijing, ChinaDepartment of Echocardiography, Beijing Anzhen Hospital, Capital Medical University and Beijing Institute of Heart, Lung and Blood Vessel Diseases, Beijing, ChinaDepartment of Echocardiography, Beijing Anzhen Hospital, Capital Medical University and Beijing Institute of Heart, Lung and Blood Vessel Diseases, Beijing, ChinaMarfan syndrome (MFS) is an autosomal dominant genetic disorder of the connective tissue, typically characteristic of cardiovascular manifestations, valve prolapse, left ventricle enlargement, and cardiac failure. Fibrillin-1 (FBN1) is the causative gene in the pathogenesis of MFS. Patients with different FBN1 mutations often present more considerable phenotypic variation. In the present study, three affected MFS pedigrees were collected for genetic analysis. Using next-generation sequencing (NGS) technologies, 3 novel frameshift pathogenic mutations which are cosegregated with affected subjects in 3 pedigrees were identified. These novel mutations provide important diagnostic and therapeutic insights for precision medicine in MFS, especially regarding the lethal cardiovascular events.http://dx.doi.org/10.1155/2018/1246516 |
| spellingShingle | Yueli Wang Xiaoyan Li Rongjuan Li Ya Yang Jie Du Identification of Novel Causal FBN1 Mutations in Pedigrees of Marfan Syndrome International Journal of Genomics |
| title | Identification of Novel Causal FBN1 Mutations in Pedigrees of Marfan Syndrome |
| title_full | Identification of Novel Causal FBN1 Mutations in Pedigrees of Marfan Syndrome |
| title_fullStr | Identification of Novel Causal FBN1 Mutations in Pedigrees of Marfan Syndrome |
| title_full_unstemmed | Identification of Novel Causal FBN1 Mutations in Pedigrees of Marfan Syndrome |
| title_short | Identification of Novel Causal FBN1 Mutations in Pedigrees of Marfan Syndrome |
| title_sort | identification of novel causal fbn1 mutations in pedigrees of marfan syndrome |
| url | http://dx.doi.org/10.1155/2018/1246516 |
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