Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies.

The article discusses the NOTCH1 receptor haploinsufficiency as the cause of Adams-Oliver syndrome (AOS) with cardiac anomalies. The study performed whole-exome sequencing for people diagnosed with AOS, and investigation led to the recognition of new heterozygous truncating NOTCH1 mutations. Results showed the role of NOTCH1 throughout a range of developmental anomalies, including cardiac defects and involved NOTCH1 haploinsufficiency.