The phenotyping and genetic basis of cardiovascular defects in syndromic and non-syndromic individuals Public Deposited

Infants with Turner syndrome (TS) and Down syndrome (DS) account for the vast majority of patients born with congenital heart defects (CHD), where those with TS have a 1 in 3 chance of having a bicuspid aortic valve (BAV) and aortopathy and those with DS have a 1 in 5 chance of having an atrioventricular septal defect (AVSD). These chromosomal aneuploidy’s associations with CHDs and observations of Mendelian inheritance patterns of CHDs in families provides strong evidence of a genetic component. Although the chromosomal aneuploidies that give rise to these syndromic forms of CHDs are well established, the additional genetic factors that determine which subset will develop a CHD is not understood. Additionally, CHDs can also occur sporadically, with no family history, and without any other defect as non-syndromic CHDs. Therefore, we also studied AVSD in the euploid population utilizing a case-control gene-burden analysis and a rare variant analysis. The information presented here is a collection of whole exome sequencing studies pertaining to the investigation of the genetic basis of congenital heart defects and diseases in both syndromic (TS and DS) and non-syndromic populations.

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  • 0000-0002-9247-6131
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Identifier
  • 10.6083/3197xm71d
  • corbitt.holly.2019.pdf
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  • 2019
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  • Corbitt, H. "The phenotyping and genetic basis of cardiovascular defects in syndromic and non-syndromic individuals" (2019). OHSU Digital Collections. https://doi.org/10.6083/3197xm71d
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