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

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.

SUBMITTER: De Franco E

PROVIDER: S-EPMC6506862 | biostudies-literature | 2019 May

REPOSITORIES: biostudies-literature

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

De Franco Elisa E Watson Rachel A RA Weninger Wolfgang J WJ Wong Chi C CC Flanagan Sarah E SE Caswell Richard R Green Angela A Tudor Catherine C Lelliott Christopher J CJ Geyer Stefan H SH Maurer-Gesek Barbara B Reissig Lukas F LF Lango Allen Hana H Caliebe Almuth A Siebert Reiner R Holterhus Paul Martin PM Deeb Asma A Prin Fabrice F Hilbrands Robert R Heimberg Harry H Ellard Sian S Hattersley Andrew T AT Barroso Inês I

American journal of human genetics 20190418 5

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 ge ...[more]

PMID: 31006513

Dataset Information

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

Publications

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

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