Ontology highlight
ABSTRACT:
SUBMITTER: Bauer RC
PROVIDER: S-EPMC2914103 | biostudies-literature | 2010 May
REPOSITORIES: biostudies-literature
Bauer Robert C RC Laney Ayanna O AO Smith Rosemarie R Gerfen Jennifer J Morrissette Jennifer J D JJ Woyciechowski Stacy S Garbarini Jennifer J Loomes Kathleen M KM Krantz Ian D ID Urban Zsolt Z Gelb Bruce D BD Goldmuntz Elizabeth E Spinner Nancy B NB
Human mutation 20100501 5
Mutations in the Notch pathway ligand Jagged1 (JAG1) cause Alagille syndrome (AGS), as well as cardiac defects in seemingly nonsyndromic individuals. To estimate the frequency of JAG1 mutations in cases with right-sided cardiac defects not otherwise diagnosed with AGS, we screened 94 cases with tetralogy of Fallot (TOF) and 50 with pulmonic stenosis/peripheral pulmonary stenosis (PS/PPS) or pulmonary valve atresia with intact ventricular septum (PA) for mutations. Sequence changes were identifie ...[more]