Details

Autor(en) / Beteiligte

• 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

Titel

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

Ist Teil von

• American journal of human genetics, 2019-05, Vol.104 (5), p.985-989

Ort / Verlag

United States: Elsevier Inc

Erscheinungsjahr

2019

Link zum Volltext

Quelle

MEDLINE

Beschreibungen/Notizen

• 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.