We report a recurrent CNOT1 de novo missense mutation, NM_016284.4:c.1603C>T,
p.(Arg535Cys), resulting in a syndrome of pancreatic agenesis and abnormal forebrain
development in three individuals and a similar phenotype in mice. CNOT1 is a transcriptional
repressor which has been suggested as being critical for maintaining embryonic ...
We report a recurrent CNOT1 de novo missense mutation, NM_016284.4:c.1603C>T,
p.(Arg535Cys), resulting in a syndrome of pancreatic agenesis and abnormal forebrain
development in three individuals and a similar phenotype in mice. CNOT1 is a transcriptional
repressor which has been suggested as being critical for maintaining embryonic stem cells in a
pluripotent state. These findings suggest that CNOT1 plays a critical role in pancreatic and
neurological development and describe a novel genetic syndrome of pancreatic agenesis and
holoprosencephaly.