A Specific CNOT1 Mutation Results in a Novel Syndrome of Pancreatic Agenesis and Holoprosencephaly through Impaired Pancreatic and Neurological Development.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 31006513.
- Also identified by DOI 10.1016/j.ajhg.2019.03.018 and PMC identifier 6506862.
- Licence recorded as CC BY.
- The licence permits redistribution, so the abstract is shown in full and the full text is available from the publisher.
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.
Medical subject headings
- Developmental Disabilities
- Holoprosencephaly
- Infant, Newborn, Diseases
- Mutation
- Nervous System Diseases
- Pancreas
- Pancreatic Diseases
- Transcription Factors