title: Exome sequencing identified a novel SMAD2 mutation in a Chinese family with early onset aortic aneurysms.
abstract: Aortic aneurysm remains a devastating disease due to its fatal complications, such as aortic dissection and rupture. A subset of aortic aneurysm is caused by genetic defect and to date more than a dozen of disease-causing genes have been discovered to account for the disease. In this study, by using whole exome sequencing, we identified a novel heterozygous missense mutation (c.833C>T, p.A278V) in the SMAD2 gene in a family with early onset aortic aneurysms. The mutation segregated in this family, was high conserved among species and predicted to be pathogenic by multiple in silico programs. To our knowledge, this is the second report that link the SMAD2 mutations to aortic aneurysm. We recommend that SMAD2 should be included in the expanding panel of genetic testing for patients with unexplained aortic aneurysms, which will facilitate genotype-phenotype correlation of SMAD2 mutations. Given the current wide application of molecular diagnosis in clinical setting, identification of the defected gene allows recognition of additional family members at risk for aortic diseases and gene-based management of the carriers.
authors.affiliation: Department of Vascular Surgery, The Second Affiliated Hospital of Nanchang University, Nanchang, Jiangxi, China; Key Laboratory of Molecular Medicine of Jiangxi Province, Nanchang, Jiangxi, China.
authors.forename: Wenwen
authors.initials: W
authors.lastname: Zhang
authors.affiliation: Department of Vascular Surgery, The Second Affiliated Hospital of Nanchang University, Nanchang, Jiangxi, China; Key Laboratory of Molecular Medicine of Jiangxi Province, Nanchang, Jiangxi, China.
authors.forename: Qingfu
authors.initials: Q
authors.lastname: Zeng
authors.affiliation: Department of Vascular Surgery, The Second Affiliated Hospital of Nanchang University, Nanchang, Jiangxi, China; Key Laboratory of Molecular Medicine of Jiangxi Province, Nanchang, Jiangxi, China.
authors.forename: Yingqi
authors.initials: Y
authors.lastname: Xu
authors.affiliation: Key Laboratory of Molecular Medicine of Jiangxi Province, Nanchang, Jiangxi, China; Department of Laboratory Medicine, The Second Affiliated Hospital of Nanchang University, Nanchang, Jiangxi, China.
authors.forename: Houqun
authors.initials: H
authors.lastname: Ying
authors.affiliation: Department of Vascular Surgery, The Second Affiliated Hospital of Nanchang University, Nanchang, Jiangxi, China.
authors.forename: Wei
authors.initials: W
authors.lastname: Zhou
authors.affiliation: Key Laboratory of Molecular Medicine of Jiangxi Province, Nanchang, Jiangxi, China.
authors.forename: Qing
authors.initials: Q
authors.lastname: Cao
authors.affiliation: Department of Vascular Surgery, The Second Affiliated Hospital of Nanchang University, Nanchang, Jiangxi, China. Electronic address: drzwm@sina.com.
authors.forename: Weimin
authors.initials: W
authors.lastname: Zhou
mesh_terms: D000165:Acridine Orange; D000595:Amino Acid Sequence; D000818:Animals; D001014:Aortic Aneurysm / Q000235:genetics*; D044466:Asian People / Q000235:genetics*; D019295:Computational Biology; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D010375:Pedigree; D051899:Smad2 Protein / Q000737:chemistry / Q000235:genetics*; D000073359:Exome Sequencing
chemical_list: C497782:SMAD2 protein, human; D051899:Smad2 Protein; D000165:Acridine Orange
keywords: Aortic aneurysms; Mutation; SMAD2; Whole exome sequencing