Cardiovascular malformations caused by NOTCH1 mutations do not keep left: data on 428 probands with left-sided CHD and their families.
Wilhelmina S Kerstjens-FrederikseIngrid M B H van de LaarYvonne J VosJudith M A VerhagenRolf M F BergerKlaske D LichtenbeltJolien S Klein Wassink-RuiterPaul A van der ZwaagGideon J du Marchie SarvaasKlasien A BergmanCatia M BilardoJolien W Roos-HesselinkJohan H P JanssenIngrid M Frohn-MulderKarin Y van Spaendonck-ZwartsJoost P van MelleRobert M W HofstraM W WesselsPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2016)
Pathogenic mutations in NOTCH1 were identified in 7% of familial LS-CHD and in 1% of sporadic LS-CHD. The penetrance is high; a cardiovascular malformation was found in 75% of NOTCH1 mutation carriers. The phenotypic spectrum includes LS-CHD, RS-CHD, CTD, and TAA. Testing NOTCH1 for an early diagnosis in LS-CHD/RS-CHD/CTD/TAA is warranted.Genet Med 18 9, 914-923.