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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; 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.
  • De Franco E; Institute of Biomedical and Clinical Science, University of Exeter Medical School, EX2 5DW Exeter, UK.
  • Watson RA; Wellcome Sanger Institute, CB10 1SA Hinxton, UK.
  • Weninger WJ; Centre for Anatomy and Cell Biology & MIC, Medical University of Vienna, 1090 Vienna, Austria.
  • Wong CC; Wellcome Sanger Institute, CB10 1SA Hinxton, UK.
  • Flanagan SE; Institute of Biomedical and Clinical Science, University of Exeter Medical School, EX2 5DW Exeter, UK.
  • Caswell R; Institute of Biomedical and Clinical Science, University of Exeter Medical School, EX2 5DW Exeter, UK.
  • Green A; Wellcome Sanger Institute, CB10 1SA Hinxton, UK.
  • Tudor C; Wellcome Sanger Institute, CB10 1SA Hinxton, UK.
  • Lelliott CJ; Wellcome Sanger Institute, CB10 1SA Hinxton, UK.
  • Geyer SH; Centre for Anatomy and Cell Biology & MIC, Medical University of Vienna, 1090 Vienna, Austria.
  • Maurer-Gesek B; Centre for Anatomy and Cell Biology & MIC, Medical University of Vienna, 1090 Vienna, Austria.
  • Reissig LF; Centre for Anatomy and Cell Biology & MIC, Medical University of Vienna, 1090 Vienna, Austria.
  • Lango Allen H; Institute of Biomedical and Clinical Science, University of Exeter Medical School, EX2 5DW Exeter, UK.
  • Caliebe A; Institute of Human Genetics, Christian-Albrechts-University 24105 Kiel and University Hospital Schleswig-Holstein, 24105 Kiel, Germany.
  • Siebert R; Institute of Human Genetics, Christian-Albrechts-University 24105 Kiel and University Hospital Schleswig-Holstein, 24105 Kiel, Germany; Institute of Human Genetics, Ulm University & Ulm University Medical Center, 89081 Ulm, Germany.
  • Holterhus PM; Department of Pediatrics, Division of Pediatric Endocrinology and Diabetes, Christian-Albrechts-University 24105 Kiel and University Hospital Schleswig-Holstein, 24105 Kiel, Germany.
  • Deeb A; Paediatric Endocrinology Department, Mafraq Hospital, 2951 Abu Dhabi, United Arab Emirates.
  • Prin F; The Francis Crick Institute, NW1 1ST London, UK.
  • Hilbrands R; Vrije Universiteit Brussel, 1090 Brussels, Belgium; Universitair Ziekenhuis Brussel, 1090 Brussels, Belgium.
  • Heimberg H; Vrije Universiteit Brussel, 1090 Brussels, Belgium.
  • Ellard S; Institute of Biomedical and Clinical Science, University of Exeter Medical School, EX2 5DW Exeter, UK.
  • Hattersley AT; Institute of Biomedical and Clinical Science, University of Exeter Medical School, EX2 5DW Exeter, UK. Electronic address: a.t.hattersley@exeter.ac.uk.
  • Barroso I; Wellcome Sanger Institute, CB10 1SA Hinxton, UK. Electronic address: ines.barroso@mrc-epid.cam.ac.uk.
Am J Hum Genet ; 104(5): 985-989, 2019 05 02.
Article en En | MEDLINE | ID: mdl-31006513
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.
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Páncreas / Enfermedades Pancreáticas / Factores de Transcripción / Discapacidades del Desarrollo / Holoprosencefalia / Enfermedades del Recién Nacido / Mutación / Enfermedades del Sistema Nervioso Tipo de estudio: Etiology_studies Límite: Animals / Female / Humans / Infant / Male / Newborn Idioma: En Año: 2019 Tipo del documento: Article
Texto completo
Imprimir
XML
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Páncreas / Enfermedades Pancreáticas / Factores de Transcripción / Discapacidades del Desarrollo / Holoprosencefalia / Enfermedades del Recién Nacido / Mutación / Enfermedades del Sistema Nervioso Tipo de estudio: Etiology_studies Límite: Animals / Female / Humans / Infant / Male / Newborn Idioma: En Año: 2019 Tipo del documento: Article