Helmholtz Gemeinschaft


Human genetics of defects of situs

Item Type:Book Section
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 24 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, Primary Ciliary Dyskinesia, PCD, Nephronophthisis, NPHP, NPHP2, NPHP3, NPHP4, PKD2, CRELD1, SHROOM3, Whole Exome Sequencing
Title of Book:Congenital Heart Diseases: The Broken Heart : Clinical Features, Human Genetics and Molecular Pathways
Page Range:463-472
Official Publication:https://doi.org/10.1007/978-3-7091-1883-2_38

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