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Human genetics of tetralogy of fallot and double outlet right ventricle

Item Type:Book Section
Title:Human genetics of tetralogy of fallot and double outlet right ventricle
Creators Name:Dorn, C. and Perrot, A. and Rickert-Sperling, S.
Abstract:Tetralogy of Fallot (TOF) and double outlet right ventricle (DORV) are conotruncal defects resulting from disturbances of the second heart field and the neural crest, which can occur as isolated malformations or as part of multiorgan syndromes. Their etiology is multifactorial and characterized by overlapping genetic causes. In this chapter, we present the different genetic alterations underlying the two diseases, which range from chromosomal abnormalities like aneuploidies and structural mutations to rare single nucleotide variations affecting distinct genes. For example, mutations in the cardiac transcription factors NKX2-5, GATA4, and HAND2 have been identified in isolated TOF cases, while mutations of TBX5 and 22q11 deletion, leading to haploinsufficiency of TBX1, cause Holt-Oram and DiGeorge syndrome, respectively. Moreover, genes involved in signaling pathways, laterality determination, and epigenetic mechanisms have also been found mutated in TOF and/or DORV patients. Finally, genome-wide association studies identified common single nucleotide polymorphisms associated with the risk for TOF.
Keywords:Tetralogy of Fallot, TOF, Double Outlet Right Ventricle, DORV, NKX2-5, GATA4, HAND2, TBX5, 22q11 Deletion, TBX1, Holt-Oram Syndrome, DiGeorge Syndrome, Copy Number Variations, CNVs, Single Nucleotide Polymorphisms, SNPs, Down Syndrome, Patau Syndrome, Trisomy, Edwards Syndrome, 22q11 Deletion Syndrome, Velocardiofacial Syndrome, Cri du Chat Syndrome, Cat Eye Syndrome, Williams-Beuren Syndrome, Jacobsen Syndrome, JAG1, FOG2, Laterality Defects, Heterotaxy, NOTCH2, LEOPARD Syndrome, CHARGE Syndrome, Genome-Wide Association Studies, CHD7, GDF1, CFC1
Title of Book:Congenital Heart Diseases: The Broken Heart : Clinical Features, Human Genetics and Molecular Pathways
Page Range:403-416
Official Publication:https://doi.org/10.1007/978-3-7091-1883-2_32

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