A specific CNOT1 mutation results in a novel syndrome of pancreatic agenesis and holoprosencephaly through impaired pancreatic and neurological development
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Elisa De Franco Rachel A Watson Wolfgang J Weninger Chi C Wong Sarah E Flanagan Richard Caswell Angela Green Catherine Tudor Christopher J Lelliott Stefan H Geyer Barbara Maurer-Gesek Lukas F Reissig Hana Lango Allen Almuth Caliebe Reiner Siebert Paul Martin Holterhus Asma Deeb Fabrice Prin Robert Hilbrands Harry Heimberg Sian Ellard Andrew T Hattersley Inês BarrosoAbstract
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.
Journal details
Volume 104
Issue number 5
Pages 985-989
Publication date
Full text links
Publisher website (DOI) 10.1016/j.ajhg.2019.03.018
Figshare View on figshare
Europe PubMed Central 31006513
Pubmed 31006513
