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

Tijdschriftbijdrage - Tijdschriftartikel

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.

Tijdschrift: Am J Hum Genet
ISSN: 0002-9297
Issue: 5
Volume: 104
Pagina's: 985-989
Jaar van publicatie:2019
Trefwoorden:agenesis, development, diabetes, genetics, mutation, neonatal, neurological, pancreas
CSS-citation score:3
Toegankelijkheid:Closed