Germline mutations in NKX2-5, GATA4, and CRELD1 are rare in a Mexican sample of Down syndrome patients with endocardial cushion and septal heart defects.

doi:10.1007/s00246-014-1091-3

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Germline mutations in NKX2-5, GATA4, and CRELD1 are rare in a Mexican sample of Down syndrome patients with endocardial cushion and septal heart defects.

Pediatric cardiology - 1 Apr 2015

Alcántara-Ortigoza Miguel A, De Rubens-Figueroa Jesús, Reyna-Fabian Miriam E, Estandía-Ortega Bernardette, González-del Angel Ariadna, Molina-Álvarez Bertha, Velázquez-Aragón José A, Villagómez-Martínez Sandra, Pereira-López Gabriela I, Martínez-Cruz Víctor, Cruz-Martínez Víctor, Álvarez-Gómez Rosa M, Díaz-García Luisa, García-Díaz Luisa

Abstract excerpt

Congenital heart defects (CHD) are found in ~50 % of Down syndrome (DS) patients. Genetic variants have been implicated, including CRELD1 mutations, but no previous study has examined the candidate genes, NKX2-5 and GATA4, in DS patients with secundum atrial defects (ASDII) and ventricular septal defects (VSD). Furthermore, CRELD1 mutations have not yet been studied in Mexican DS patients with atrioventricular...

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PMID: 25524324
DOI: 10.1007/s00246-014-1091-3

Genes

CRELD1
GATA4

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