Novel pathogenic <i>SMAD2</i> variants in five families with arterial aneurysm and dissection: further delineation of the phenotype

Abstract

Taken together, our data suggest that heterozygous loss-of-function <i>SMAD2</i> variants can cause a wide spectrum of autosomal dominant aortic and arterial aneurysmal disease, combined with connective tissue findings reminiscent of MFS and LDS.

References

Page 1

	Year	Citations
Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene Harry C. Dietz, Carry Cutting, Reed E. Pyeritz, Nature Marfan SyndromeMendelian DisorderGenetic DisorderGeneticsPathogenesis	1991	2K
A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2 Bart Loeys, Junji Chen, Enid Neptune, Nature Genetics Developmental AnomalyDevelopmental BiologyCraniofacial AnomaliesCraniofacial DevelopmentCongenital Heart Defect	2005	1.8K
Dysregulation of TGF-β activation contributes to pathogenesis in Marfan syndrome Enid Neptune, Pamela A. Frischmeyer, Dan E. Arking, Nature Genetics Marfan SyndromeDevelopmental BiologyDisease MechanismAutoantibody ProductionHuman Growth	2003	1.4K
De novo mutations in histone-modifying genes in congenital heart disease Samir Zaidi, Murim Choi, Hiroko Wakimoto, Nature	2013	949
Mutations in smooth muscle α-actin (ACTA2) lead to thoracic aortic aneurysms and dissections Dong-Chuan Guo, Hariyadarshi Pannu, Van Tran‐Fadulu, Nature Genetics MechanobiologyPhysiologyCytoskeletonAortic AneurysmsSmooth Muscle α-Actin	2007	835
Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis Ingrid M.B.H. van de Laar, Rogier A. Oldenburg, Gerard Pals, Nature Genetics Cartilage DegenerationOsteoarthritisPathologySyndromic FormAortic Aneurysms	2011	663
Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus Li‐Min Zhu, Roger Vranckx, Philippe Khau Van Kien, Nature Genetics CardiomyopathyAortic DiseasesGeneticsPathologyCongenital Heart Anomaly	2006	605
Noncanonical TGFβ Signaling Contributes to Aortic Aneurysm Progression in Marfan Syndrome Mice Tammy M. Holm, Jennifer Habashi, Jefferson J. Doyle, Science	2011	464
Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm Mark E. Lindsay, Dorien Schepers, Nikhita Bolar, Nature Genetics Thoracic Aortic AneurysmSyndromic PresentationDevelopmental BiologyPathologyVascular Biology	2012	454
Mutations in Myosin Light Chain Kinase Cause Familial Aortic Dissections Li Wang, Dongchuan Guo, Jiumei Cao, The American Journal of Human Genetics Aortic DiseasesPathologyMedicineCell BiologyAortic Dissection	2010	311

Page 1