Human genetics of defects of situs

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Item Type:	Review
Title:	Human genetics of defects of situs
Creators Name:	Perrot, A. and Rickert-Sperling, S.
Abstract:	Defects of situs are associated with complex sets of congenital heart defects in which the normal concordance of asymmetric thoracic and abdominal organs is disturbed. The cellular and molecular mechanisms underlying the formation of the embryonic left–right axis have been investigated extensively in the past decade. This has led to the identification of mutations in at least 33 different genes in humans with heterotaxy and situs defects. Those mutations affect a broad range of molecular components, from transcription factors, signaling molecules, and chromatin modifiers to ciliary proteins. A substantial overlap of these genes is observed with genes associated with other congenital heart diseases such as tetralogy of Fallot and double-outlet right ventricle, d-transposition of the great arteries, and atrioventricular septal defects. In this chapter, we present the broad genetic heterogeneity of situs defects including recent human genomics efforts.
Keywords:	Situs Inversus, Situs Ambiguus, Situs Defects, Heterotaxy, Dextrocardia, Tetralogy Of Fallot, Double-Outlet Right Ventricle, d-Transposition of the Great Arteries, Atrioventricular Septal Defects, Copy-Number Variations, CNVs, Cardiac Transcription Factors, NKX2–5, GATA4, ZIC3, Signaling Pathways, ACVR2B, GDF1, CFC1, LEFTY2, NODAL, Histone-Modifying Genes, Ciliary Genes, Primary Cilia, Motile Cilia, Kartagener Syndrome, DNAH5, DNAI1, DNAH6, DNAH11, Primary Ciliary Dyskinesia, PCD, Nephronophthisis, NPHP, NPHP2, NPHP3, NPHP4, PKD2, CRELD1, SHROOM3, WDR16, MMP21, MNS1, NME7, PKD1L1, NUP205, NUP210, Whole-Exome Sequencing
Source:	Advances in Experimental Medicine and Biology
Series Name:	Advances in Experimental Medicine and Biology
Title of Book:	Congenital Heart Diseases: The Broken Heart : Clinical Features, Human Genetics and Molecular Pathways
ISSN:	0065-2598
ISBN:	978-3-031-44086-1
Publisher:	Springer
Volume:	1441
Number:	1411
Page Range:	705-717
Number of Pages:	1112
Date:	18 June 2024
Official Publication:	https://doi.org/10.1007/978-3-031-44087-8_42
PubMed:	View item in PubMed

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