Wilhelmina S. Kerstjens-Frederikse and colleagues present a study to determine the prevalence and phenotypic spectrum of NOTCH1 mutations in left-sided congenital heart disease (LS-CHD). They identified pathogenic mutations in NOTCH1 in 7% of familial LS-CHD and in 1% of sporadic LS-CHD. Their study hightlights a high penetrance; a cardiovascular malformation was found in 75% of NOTCH1 mutation carriers.
Kerstjens-Frederikse, Wilhelmina S. et al. Genetics in Medicine.
"We are very pleased with Alamut since it conveniently streamlines post-sequencing analyses of detected variants. We value the programme user friendliness and its all-in one approach to variant analysis."
PROF. MILAN MACEK Jr. M.D. Ph.D.
Charles University, Prague