Functional study of DAND5 variant in patients with Congenital Heart Disease and laterality defects.

ABSTRACT:

Background

Perturbations on the Left-Right axis establishment lead to laterality defects, with frequently associated Congenital Heart Diseases (CHDs). Indeed, in the last decade, it has been reported that the etiology of isolated cases of CHDs or cases of laterality defects with associated CHDs is linked with variants of genes involved in the Nodal signaling pathway.

Methods

With this in mind, we analyzed a cohort of 38 unrelated patients with Congenital Heart Defects that can arise from initial perturbations in the formation of the Left-Right axis and 40 unrelated ethnically matched healthy individuals as a control population. Genomic DNA was extracted from buccal epithelial cells, and variants screening was performed by PCR and direct sequencing. A Nodal-dependent lucifera

SUBMITTER: Cristo F 

PROVIDER: S-EPMC5525210 | biostudies-literature | 2017 Jul

REPOSITORIES: biostudies-literature