| First Author | De Franco E | Year | 2019 |
| Journal | Am J Hum Genet | Volume | 104 |
| Issue | 5 | Pages | 985-989 |
| PubMed ID | 31006513 | Mgi Jnum | J:280232 |
| Mgi Id | MGI:6369118 | Doi | 10.1016/j.ajhg.2019.03.018 |
| Citation | De Franco E, et al. (2019) A Specific CNOT1 Mutation Results in a Novel Syndrome of Pancreatic Agenesis and Holoprosencephaly through Impaired Pancreatic and Neurological Development. Am J Hum Genet 104(5):985-989 |
| abstractText | We report a recurrent CNOT1 de novo missense mutation, GenBank: 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 that 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. |
