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.
"In developing new genetic assays and evaluating the implications of newly identified sequence variations, Alamut helps me work faster and safer to ensure and document quality in assay design and interpretations."
HELGE ROOTWELT M.D. Ph.D.
Oslo University Hospital, Norway