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A Specific CNOT1 Mutation Results in a Novel Syndrome of Pancreatic Agenesis and Holoprosencephaly through Impaired Pancreatic and Neurological Development
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 suggeste...
| Autores principales: | , , , , , , , , , , , , , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Elsevier
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6506862/ https://www.ncbi.nlm.nih.gov/pubmed/31006513 http://dx.doi.org/10.1016/j.ajhg.2019.03.018 |
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| author | De Franco, Elisa Watson, Rachel A. Weninger, Wolfgang J. Wong, Chi C. Flanagan, Sarah E. Caswell, Richard Green, Angela Tudor, Catherine Lelliott, Christopher J. Geyer, Stefan H. Maurer-Gesek, Barbara Reissig, Lukas F. Lango Allen, Hana Caliebe, Almuth Siebert, Reiner Holterhus, Paul Martin Deeb, Asma Prin, Fabrice Hilbrands, Robert Heimberg, Harry Ellard, Sian Hattersley, Andrew T. Barroso, Inês |
| author_facet | De Franco, Elisa Watson, Rachel A. Weninger, Wolfgang J. Wong, Chi C. Flanagan, Sarah E. Caswell, Richard Green, Angela Tudor, Catherine Lelliott, Christopher J. Geyer, Stefan H. Maurer-Gesek, Barbara Reissig, Lukas F. Lango Allen, Hana Caliebe, Almuth Siebert, Reiner Holterhus, Paul Martin Deeb, Asma Prin, Fabrice Hilbrands, Robert Heimberg, Harry Ellard, Sian Hattersley, Andrew T. Barroso, Inês |
| author_sort | De Franco, Elisa |
| collection | PubMed |
| description | 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. |
| format | Online Article Text |
| id | pubmed-6506862 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2019 |
| publisher | Elsevier |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-65068622019-10-22 A Specific CNOT1 Mutation Results in a Novel Syndrome of Pancreatic Agenesis and Holoprosencephaly through Impaired Pancreatic and Neurological Development De Franco, Elisa Watson, Rachel A. Weninger, Wolfgang J. Wong, Chi C. Flanagan, Sarah E. Caswell, Richard Green, Angela Tudor, Catherine Lelliott, Christopher J. Geyer, Stefan H. Maurer-Gesek, Barbara Reissig, Lukas F. Lango Allen, Hana Caliebe, Almuth Siebert, Reiner Holterhus, Paul Martin Deeb, Asma Prin, Fabrice Hilbrands, Robert Heimberg, Harry Ellard, Sian Hattersley, Andrew T. Barroso, Inês Am J Hum Genet Report 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. Elsevier 2019-05-02 2019-04-18 /pmc/articles/PMC6506862/ /pubmed/31006513 http://dx.doi.org/10.1016/j.ajhg.2019.03.018 Text en © 2019 The Authors http://creativecommons.org/licenses/by/4.0/ This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/). |
| spellingShingle | Report De Franco, Elisa Watson, Rachel A. Weninger, Wolfgang J. Wong, Chi C. Flanagan, Sarah E. Caswell, Richard Green, Angela Tudor, Catherine Lelliott, Christopher J. Geyer, Stefan H. Maurer-Gesek, Barbara Reissig, Lukas F. Lango Allen, Hana Caliebe, Almuth Siebert, Reiner Holterhus, Paul Martin Deeb, Asma Prin, Fabrice Hilbrands, Robert Heimberg, Harry Ellard, Sian Hattersley, Andrew T. Barroso, Inês A Specific CNOT1 Mutation Results in a Novel Syndrome of Pancreatic Agenesis and Holoprosencephaly through Impaired Pancreatic and Neurological Development |
| title | A Specific CNOT1 Mutation Results in a Novel Syndrome of Pancreatic Agenesis and Holoprosencephaly through Impaired Pancreatic and Neurological Development |
| title_full | A Specific CNOT1 Mutation Results in a Novel Syndrome of Pancreatic Agenesis and Holoprosencephaly through Impaired Pancreatic and Neurological Development |
| title_fullStr | A Specific CNOT1 Mutation Results in a Novel Syndrome of Pancreatic Agenesis and Holoprosencephaly through Impaired Pancreatic and Neurological Development |
| title_full_unstemmed | A Specific CNOT1 Mutation Results in a Novel Syndrome of Pancreatic Agenesis and Holoprosencephaly through Impaired Pancreatic and Neurological Development |
| title_short | A Specific CNOT1 Mutation Results in a Novel Syndrome of Pancreatic Agenesis and Holoprosencephaly through Impaired Pancreatic and Neurological Development |
| title_sort | specific cnot1 mutation results in a novel syndrome of pancreatic agenesis and holoprosencephaly through impaired pancreatic and neurological development |
| topic | Report |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6506862/ https://www.ncbi.nlm.nih.gov/pubmed/31006513 http://dx.doi.org/10.1016/j.ajhg.2019.03.018 |
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