Human Genetics of Tetralogy of Fallot and Double-Outlet Right Ventricle.
Adv Exp Med Biol
; 1441: 629-644, 2024.
Article
em En
| MEDLINE
| ID: mdl-38884738
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.
Palavras-chave
22q11 deletion; 22q11 deletion syndrome; CFC1; CHARGE syndrome; CHD7; CNVs; Cat eye syndrome; Copy number variations; Cri du chat syndrome; DORV; DiGeorge syndrome; Double-outlet right ventricle; Down syndrome; Edwards syndrome; FOG2; GATA4; GDF1; Genome-wide association studies; HAND2; Heterotaxy; HoltOram syndrome; JAG1; Jacobsen syndrome; LEOPARD syndrome; Laterality defects; NKX25; NOTCH2; Patau syndrome; SNPs; Single nucleotide polymorphisms; TBX1; TBX5; TOF; Tetralogy of Fallot; Trisomy; Velocardiofacial syndrome; WilliamsBeuren syndrome
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Tetralogia de Fallot
/
Dupla Via de Saída do Ventrículo Direito
Limite:
Humans
Idioma:
En
Revista:
Adv Exp Med Biol
Ano de publicação:
2024
Tipo de documento:
Article
País de afiliação:
Alemanha