A Novel Mutation of SMAD3 Identified in a Chinese Family with Aneurysms-Osteoarthritis Syndrome.
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...
| Publicado en: | BioMed Research International Vol. 2015; pp. 1 - 7 |
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| Autores principales: | , , , , , , , , , |
| Formato: | case study diagnostic images tables/charts Journal Article |
| Publicado: |
Wiley-Blackwell
6/29/2015
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| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=109274696&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 109274696 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 23146133 FT2T jtl: BioMed Research International issn: 23146133 maglogo: N pubinfo: dt: 6/29/2015 vid: 2015 pid: 480 pub: Wiley-Blackwell place: Malden, Massachusetts artinfo: ui: 109274696 109274696 109274696 10.1155/2015/968135 109274696 ppf: 1 ppct: 6 formats: fmt: @attributes: type: P tig: atl: A Novel Mutation of SMAD3 Identified in a Chinese Family with Aneurysms-Osteoarthritis Syndrome. aug: au: Zhang, Wenwen Zhou, Min Liu, Cheng Liu, Chen Qiao, Tong Huang, Dian Ran, Feng Wang, Wei Liu, Changjian Liu, Zhao affil: Department of Vascular Surgery, Nanjing Drum Tower Hospital, The Affiliated Hospital of Nanjing University Medical School, 321 Zhongshan Road, Nanjing, Jiangsu 210008, China sug: subj: Mutation Aneurysm Familial and Genetic Osteoarthritis Familial and Genetic Hereditary Diseases Diagnosis Chinese Persons Aneurysm Diagnosis Aneurysm Surgery Osteoarthritis Diagnosis Carrier Proteins Middle Age Male Polymerase Chain Reaction Magnetic Resonance Imaging Tomography, X-Ray Computed Angiography Adult Female Family History Abdominal Neoplasms Etiology Iliac Artery Back Pain Etiology Genetic Screening Middle Aged: 45-64 years Adult: 19-44 years Male Female ab: 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. pubtype: Academic Journal doctype: case study diagnostic images tables/charts Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
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