A specific CNOT1 mutation results in a novel syndrome of pancreatic agenesis and holoprosencephaly through impaired pancreatic and neurological development
- De Franco, E
- Watson, RA
- Weninger, WJ
- Wong, CC
- Flanagan, SE
- Caswell, R
- Green, A
- Tudor, C
- Lelliott, CJ
- Geyer, SH
- Maurer-Gesek, B
- Reissig, LF
- Allen, HL
- Caliebe, A
- Siebert, R
- Holterhus, PM
- Deeb, A
- Prin, F
- Hilbrands, R
- Heimberg, H
- Ellard, S
- Hattersley, AT
- Barroso, I
Publication date
April 2019
DOI Publisher
Elsevier BV Journal
The American Journal of Human Genetics Language
EnglishAbstract
This is the final version. Available on open access from Elsevier via the DOI in this recordWe report a recurrent CNOT1 de novo missense mutation, 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 which 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.Wellcome TrustRoyal SocietyResearch Foundation-Flanders (FWO)VUB Research CouncilStichting Diabetes ...
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