Expanding the phenome and variome of the ROBO-SLIT pathway in Congenital Heart Defects

In collaboration with IGF (Inserm U1191) and three departments of pediatric and adult cardiology (Hôpital de la Timone and Hôpital Necker-Enfants Malades),  the Genetic and Development of Cardiac Defects team reinforces the implication of the ROBO4 gene not only in bicuspid aortic valve (BAV) but also in the tetralogy of Fallot which are the most frequent congenital heart defects found at birth.

In this study we report the analysis of a cohort of singleton exome sequencing comprising 40 adult patients with BAV, 20 pediatric BAV patients and 10 pediatric cases with tetralogy of Fallot. We identify variants in ROBO and SLIT genes. These variants are more frequently identified in pediatric cases than in adult.