De Franco, Elisa Watson, Rachel A Weninger, Wolfgang J Wong, Chi C Flanagan, Sarah E Caswell, Richard Green, Angela Tudor, Catherine Lelliott, Christopher J Geyer, Stefan H Maurer-Gesek, Barbara Reissig, Lukas F Allen, Hana Lango Caliebe, Almuth Siebert, Reiner Holterhus, Paul Martin Deeb, Asma Prin, Fabrice Hilbrands, Robert Heimberg, Harry Ellard, Sian Hattersley, Andrew T Barroso, Inês A specific CNOT1 mutation results in a novel syndrome of pancreatic agenesis and holoprosencephaly through impaired pancreatic and neurological development. 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. agenesis;development;diabetes;genetics;mutation;neonatal;neurological;pancreas;LM;Genetics & Heredity;06 Biological Sciences;11 Medical and Health Sciences 2020-01-06
    https://crick.figshare.com/articles/journal_contribution/A_specific_CNOT1_mutation_results_in_a_novel_syndrome_of_pancreatic_agenesis_and_holoprosencephaly_through_impaired_pancreatic_and_neurological_development_/11522850