Whole-exome sequencing uncovers the genetic complexity of bicuspid aortic valve in families with early-onset complications.

doi:10.1016/j.ajhg.2024.08.001

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Article

Whole-exome sequencing uncovers the genetic complexity of bicuspid aortic valve in families with early-onset complications.

American journal of human genetics - 3 Oct 2024

Mansoorshahi Sara, Yetman Anji T, Bissell Malenka M, Kim Yuli Y, Michelena Hector I, De Backer Julie, Mosquera Laura Muiño, Hui Dawn S, Caffarelli Anthony, Andreassi Maria G, Foffa Ilenia, Guo Dongchuan, Citro Rodolfo, De Marco Margot, Tretter Justin T, Morris Shaine A, Body Simon C, Chong Jessica X, Bamshad Michael J, Milewicz Dianna M, Prakash Siddharth K

Abstract excerpt

Bicuspid aortic valve (BAV) is the most common congenital heart lesion with an estimated population prevalence of 1%. We hypothesize that specific gene variants predispose to early-onset complications of BAV (EBAV). We analyzed whole-exome sequences (WESs) to identify rare coding variants that contribute to BAV disease in 215 EBAV-affected families. Predicted damaging variants in candidate genes with moderate or...

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Identifiers

PMID: 39226896
DOI: 10.1016/j.ajhg.2024.08.001
PMCID: PMC11480851

Genes

FBN2
MYH6

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