Identification of Novel Causal FBN1 Mutations in Pedigrees of Marfan Syndrome
Joint Authors
Du, Jie
Li, Xiaoyan
Wang, Yueli
Li, Rongjuan
Yang, Ya
Source
International Journal of Genomics
Issue
Vol. 2018, Issue 2018 (31 Dec. 2018), pp.1-8, 8 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2018-04-17
Country of Publication
Egypt
No. of Pages
8
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Wang, Yueli& Li, Xiaoyan& Li, Rongjuan& Yang, Ya& Du, Jie. 2018. Identification of Novel Causal FBN1 Mutations in Pedigrees of Marfan Syndrome. International Journal of Genomics،Vol. 2018, no. 2018, pp.1-8.
https://search.emarefa.net/detail/BIM-1172666
Modern Language Association (MLA)
Wang, Yueli…[et al.]. Identification of Novel Causal FBN1 Mutations in Pedigrees of Marfan Syndrome. International Journal of Genomics No. 2018 (2018), pp.1-8.
https://search.emarefa.net/detail/BIM-1172666
American Medical Association (AMA)
Wang, Yueli& Li, Xiaoyan& Li, Rongjuan& Yang, Ya& Du, Jie. Identification of Novel Causal FBN1 Mutations in Pedigrees of Marfan Syndrome. International Journal of Genomics. 2018. Vol. 2018, no. 2018, pp.1-8.
https://search.emarefa.net/detail/BIM-1172666
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1172666