A Novel Mutation of SMAD3 Identified in a Chinese Family with Aneurysms-Osteoarthritis Syndrome
Joint Authors
Zhang, Wenwen
Zhou, Min
Liu, Cheng
Liu, Chen
Qiao, Tong
Huang, Dian
Ran, Feng
Wang, Wei
Liu, Changjian
Liu, Zhao
Source
Issue
Vol. 2015, Issue 2015 (31 Dec. 2015), pp.1-6, 6 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2015-06-29
Country of Publication
Egypt
No. of Pages
6
Main Subjects
Abstract EN
Aneurysms-osteoarthritis syndrome (AOS) is a recently delineated autosomal dominant disorder characterized by aneurysms, dissections, and tortuosity throughout the arterial tree in association with early onset osteoarthritis, mild craniofacial features, and skeletal and cutaneous anomalies.
Previous studies have demonstrated that mutations in SMAD3, a key regulator of TGF-β signal transduction, contribute to AOS.
Here, we investigated a family of three generations affected by AOS.
A novel SMAD3 mutation, c.266G>A (p.C89Y), was identified and cosegregated with the affected individuals in this family.
Our finding expands the mutation spectrum of SMAD3 gene and further strengthens the connection between the presence of aneurysms-osteoarthritis phenotype and SMAD3 mutations, which facilitates the understanding of the genotype-phenotype correlation of AOS.
American Psychological Association (APA)
Zhang, Wenwen& Zhou, Min& Liu, Cheng& Liu, Chen& Qiao, Tong& Huang, Dian…[et al.]. 2015. A Novel Mutation of SMAD3 Identified in a Chinese Family with Aneurysms-Osteoarthritis Syndrome. BioMed Research International،Vol. 2015, no. 2015, pp.1-6.
https://search.emarefa.net/detail/BIM-1057424
Modern Language Association (MLA)
Zhang, Wenwen…[et al.]. A Novel Mutation of SMAD3 Identified in a Chinese Family with Aneurysms-Osteoarthritis Syndrome. BioMed Research International No. 2015 (2015), pp.1-6.
https://search.emarefa.net/detail/BIM-1057424
American Medical Association (AMA)
Zhang, Wenwen& Zhou, Min& Liu, Cheng& Liu, Chen& Qiao, Tong& Huang, Dian…[et al.]. A Novel Mutation of SMAD3 Identified in a Chinese Family with Aneurysms-Osteoarthritis Syndrome. BioMed Research International. 2015. Vol. 2015, no. 2015, pp.1-6.
https://search.emarefa.net/detail/BIM-1057424
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1057424