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

Authors :: De Franco E
Watson RA
Weninger WJ
Wong CC
Flanagan SE
Caswell R
Green A
Tudor C
Lelliott CJ
Geyer SH
Maurer-Gesek B
Reissig LF
Lango Allen H
Caliebe A
Siebert R
Holterhus PM
Deeb A
Prin F
Hilbrands R
Heimberg H
Ellard S
Hattersley AT
Barroso I
Source :: American journal of human genetics [Am J Hum Genet] 2019 May 02; Vol. 104 (5), pp. 985-989. Date of Electronic Publication: 2019 Apr 18.
Publication Year :: 2019
Abstract: We report a recurrent CNOT1 de novo missense mutation, GenBank: NM&#95;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.<br /> (Copyright © 2019 The Authors. Published by Elsevier Inc. All rights reserved.)

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