Whole-exome sequencing reveals a monogenic cause in 56% of individuals with laterality disorders and associated congenital heart defects.

Yoav BolkierOrtal BarelDina Marek-YagelDanit Atias-VaronMaayan KaganAmir VardiDavid MishaliUriel KatzYishay SalemTal Tirosh-WagnerJeffrey M JacobsonAnnick Raas-RothschildOdelia ChorinAviva EliyahuYarden SaroufOmer ShlomovitzAlvit VeberNechama ShalvaElisheva JavaskyYishay Ben MosheOrna Staretz-ChachamGideon RechaviShrikant ManeYair AniksterAsaf VivanteBen Pode-Shakked

Published in: Journal of medical genetics (2021)

Our findings contribute to the current knowledge regarding monogenic causes of heterotaxy and its associated congenital heart defects and underscore the role of next-generation sequencing techniques in the diagnostic workup of such patients, and especially among consanguineous families.

Keyphrases

end stage renal disease
ejection fraction
newly diagnosed
chronic kidney disease
healthcare
peritoneal dialysis
copy number
genome wide