Exome Analysis of a Family with Pleiotropic Congenital Heart Disease.
Circ Cardiovasc Genet. 2012 Feb 15;
Arrington CB, Bleyl SB, Matsunami N, Bonnell GD, Otterud BE, Nielsen DC, Stevens J, Levy S, Leppert MF, Bowles NE
BACKGROUND: -A number of single gene defects have been identified in patients with isolated or nonsyndromic congenital heart defects (CHD). However, due to significant genetic heterogeneity candidate gene approaches have had limited success in finding high-risk alleles in most cases. The purpose of this study was to use exome sequencing to identify high-risk gene variants in a family with highly penetrant pleiotropic CHD. METHODS AND RESULTS: -DNA samples from 2 members of a family with diverse CHD were analyzed by exome sequencing. Variants were filtered to eliminate common variants and sequencing artifacts and then prioritized based upon the predicted effect of the variant and on gene function. The remainder of the family was screened using PCR, high resolution melting analysis and DNA sequencing to evaluate variant segregation. After filtering, more than 2000 rare variants (including single nucleotide substitutions and indels) were shared by the 2 individuals. Of these, 46 were non-synonymous, 3 were predicted to alter splicing, and 6 resulted in a frameshift. Prioritization reduced the number of variants potentially involved in CHD to 18. None of the variants completely segregated with CHD in the kindred. However, one variant, Myh6 Ala290Pro, was identified in all but one affected individual. This variant was previously identified in a patient with tricuspid atresia and large secundum ASD. CONCLUSIONS: -It is likely that next generation sequencing will become the method of choice for unraveling the complex genetics of CHD, but information gained by analysis of transmission through families will be crucial.
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After receiving the diagnosis of heart disease, one of the first questions is always “Why did I get coronary heart disease?” We all know the traditional risk factors for heart disease: high cholesterol, smoking, obesity, poor diet, diabetes, family history …
2012-02-17T12:59:35Z
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Big Mountain Drugs Honors Heart Health Awareness Month by Offering a Free Coupon - Albany Times Union
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Big Mountain Drugs Honors Heart Health Awareness Month by Offering a Free Coupon
Albany Times Union
Big Mountain Drugs, a licensed Canadian online pharmacy, is honouring Heart Health Awareness month by offering ten dollars off of any heart medication. Heart disease, the leading cause of death in America, kills over 700000 Americans each year.
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What is Cardiovascular Disease (Heart Disease)?
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Open Question: Why cashu nut Cherokee Lyndon?
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