NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy

• Published in: Genome medicine Vol. 16; no. 1; pp. 53 - 20
• Main Authors: Dardas, Zain, Fatih, Jawid M., Jolly, Angad, Dawood, Moez, Du, Haowei, Grochowski, Christopher M., Jones, Edward G., Jhangiani, Shalini N., Wehrens, Xander H. T., Liu, Pengfei, Bi, Weimin, Boerwinkle, Eric, Posey, Jennifer E., Muzny, Donna M., Gibbs, Richard A., Lupski, James R., Coban-Akdemir, Zeynep, Morris, Shaine A.
• Format: Journal Article
• Language: English
• Published: England BioMed Central Ltd 03.04.2024; BioMed Central; BMC
• Subjects: Alleles; Animals; Arteries; Cloning; Comparative Genomic Hybridization; Congenital diseases; Congenital heart disease; Consent; Copy number; Defects; Developmental biology; DNA sequencing; Dosage; Embryogenesis; Gene dosage; Genes; Genetic disorders; Genetic diversity; Genetic screening; Genetic testing; Genetics; Genomes; Genomic analysis; Genomics; Heart; Heart Defects, Congenital - genetics; Heart diseases; Heterotaxy; Heterotaxy Syndrome - genetics; Humans; Hybridization; Laterality defects; Medical colleges; Mutagenesis; NODAL; Nucleic acids; Nucleotide sequencing; Pattern formation; Phenotype; Phenotypes; Protein structure; Reclassification; Secondary structure; Signal transduction; Single ventricle; Transforming growth factor-b; Transforming growth factors; Transposition; Transposition of Great Vessels; Laterality defects; Transposition; Structural variation; Heterotaxy; Single ventricle; Congenital heart disease; NODAL; Genetic diagnosis

NODAL signaling plays a critical role in embryonic patterning and heart development in vertebrates. Genetic variants resulting in perturbations of the TGF-β/NODAL signaling pathway have reproducibly been shown to cause laterality defects in humans. To further explore this association and improve gen...