A Specific CNOT1 Mutation Results in a Novel Syndrome of Pancreatic Agenesis and Holoprosencephaly through Impaired Pancreatic and Neurological Development

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, Henry HeimbergSian Ellard, Andrew T Hattersley, Inês Barroso

Research output: Contribution to journalArticle

14 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)985-989
Number of pages5
JournalAmerican Journal of Human Genetics
Volume104
Issue number5
Early online date10 Apr 2019
DOIs
Publication statusPublished - 2 May 2019

Bibliographical note

Copyright © 2019 The Authors. Published by Elsevier Inc. All rights reserved.

Keywords

  • agenesis
  • development
  • diabetes
  • genetics
  • mutation
  • neonatal
  • neurological
  • pancreas

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