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1879-0380752022AugCurrent opinion in genetics & developmentCurr Opin Genet DevThe genetic landscape of cardiovascular left-right patterning defects.10193710193710.1016/j.gde.2022.101937S0959-437X(22)00046-6Heterotaxy is a disorder with complex congenital heart defects and diverse left-right (LR) patterning defects in other organ systems. Despite evidence suggesting a strong genetic component in heterotaxy, the majority of molecular causes remain unknown. Established genes often involve a ciliated, embryonic structure known as the left-right organizer (LRO). Herein, we focus on genetic discoveries in heterotaxy in the past two years. These include complex genetic architecture, novel mechanisms regulating cilia formation, and evidence for conservation of LR patterning between distant species. We feature new insights regarding established LR signaling pathways, bring attention to heterotaxy candidate genes in novel pathways, and provide an extensive overview of genes previously associated with laterality phenotypes in humans.Copyright © 2022 Elsevier Ltd. All rights reserved.WellsJohn RJRDepartment of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA.PaduaMaria BMBDepartment of Pediatrics, Indiana University School of Medicine, Indianapolis, IN, USA.WareStephanie MSMDepartment of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA; Department of Pediatrics, Indiana University School of Medicine, Indianapolis, IN, USA. Electronic address: stware@iu.edu.engP01 HL134599HLNHLBI NIH HHSUnited StatesJournal ArticleReviewResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't20220628
EnglandCurr Opin Genet Dev91113750959-437XIMBody PatterninggeneticsCiliametabolismHeterotaxy SyndromegeneticsHumansPhenotypeSignal Transductiongeneticsciliacongenital heart defectheterotaxylateralitymitochondriaConflict of interest statement. The authors declare the following financial interests/personal relationships which may be considered as potential competing interests: Stephanie M. Ware reports financial support was provided by National Institutes of Health. Stephanie M. Ware reports a relationship with Metis Genetics, LLC that includes: consulting or advisory.202225202241120225192022726020228176020227118332023126ppublish35777348NIHMS1944088PMC1069851010.1016/j.gde.2022.101937S0959-437X(22)00046-6Øyen N, Poulsen G, Boyd HA, Wohlfahrt J, Jensen PKA, Melbye M: Recurrence of congenital heart defects in families. 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