Abstract

A major theme of this SCCOR is discovery and elucidation of genetic defects that result in congenital cardiovascular malformations, particularly those affecting valvulogenesis. The objectives of Core B are twofold: 1. To ensure the availability of cohorts of patients with specific cardiovascular anomalies in whom phenotype has been well characterized by echocardiography. To catalogue and store echocardiographic and additional relevant clinical material along with DNA from both probands and parents so that the information is easily accessible, both by the SCCOR participants and other interested parties who satisfy the privacy governance issues that will be put in place. 2. To provide echocardiographic characterization of extended family members for probands with bicuspid or bicommisural aortic valve (BAV) (Project 1) or Noonan syndrome (NS) (Project 2). The resources obtained by these critical Core functions will facilitate identification of novel candidate genes and their genotype-phenotype correlations. As candidate genes become apparent, they can immediately be moved into mechanistically based studies by all of the SCCOR's participants.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Heart, Lung, and Blood Institute (NHLBI)
Type
Specialized Center (P50)
Project #
5P50HL074728-05
Application #
7582405
Study Section
Special Emphasis Panel (ZHL1)
Project Start
Project End
Budget Start
2008-02-01
Budget End
2009-01-31
Support Year
5
Fiscal Year
2008
Total Cost
$415,866
Indirect Cost

  Institution

Name
Cincinnati Children's Hospital Medical Center
Department
Type
DUNS #
071284913
City
Cincinnati
State
OH
Country
United States
Zip Code
45229

  Publications

Martin, Lisa J; Pilipenko, Valentina; Kaufman, Kenneth M et al. (2014) Whole exome sequencing for familial bicuspid aortic valve identifies putative variants. Circ Cardiovasc Genet 7:677-83
Martin, Lisa J; Ding, Lili; Zhang, Xue et al. (2014) A novel method, the Variant Impact On Linkage Effect Test (VIOLET), leads to improved identification of causal variants in linkage regions. Eur J Hum Genet 22:243-7
Pattison, J Scott; Osinska, Hanna; Robbins, Jeffrey (2011) Atg7 induces basal autophagy and rescues autophagic deficiency in CryABR120G cardiomyocytes. Circ Res 109:151-60
McLendon, Patrick M; Robbins, Jeffrey (2011) Desmin-related cardiomyopathy: an unfolding story. Am J Physiol Heart Circ Physiol 301:H1220-8
Calloway, Troy J; Martin, Lisa J; Zhang, Xue et al. (2011) Risk factors for aortic valve disease in bicuspid aortic valve: a family-based study. Am J Med Genet A 155A:1015-20
Benson, D Woodrow (2010) Genetic origins of pediatric heart disease. Pediatr Cardiol 31:422-9
Maloyan, Alina; Sayegh, Jennifer; Osinska, Hanna et al. (2010) Manipulation of death pathways in desmin-related cardiomyopathy. Circ Res 106:1524-32
Hinton, Robert B; Adelman-Brown, Jennifer; Witt, Sandra et al. (2010) Elastin haploinsufficiency results in progressive aortic valve malformation and latent valve disease in a mouse model. Circ Res 107:549-57
Oishi, Kimihiko; Zhang, Hui; Gault, William J et al. (2009) Phosphatase-defective LEOPARD syndrome mutations in PTPN11 gene have gain-of-function effects during Drosophila development. Hum Mol Genet 18:193-201
Cordeddu, Viviana; Di Schiavi, Elia; Pennacchio, Len A et al. (2009) Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair. Nat Genet 41:1022-6

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