• 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
  • Sian Ellard
  • Andrew T Hattersley
  • Inês Barroso

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

    Research areas

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

ID: 45513387