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.
Highlights
Discovering genes with mutations causal of pancreatic agenesis is crucial to identifying factors needed for pancreatic development
We investigated an international cohort of 107 individuals diagnosed with pancreatic agenesis—defined by requiring both endocrine and exocrine replacement therapy within the first 6 months of life—and identified a mutation in a known gene in 98 of them (Table S1)
We identified a heterozygous missense mutation in CNOT1 (MIM: 604917; GenBank: NM_016284.4; c.1603C>T [p.Arg535Cys]) in three individuals with pancreatic agenesis
Summary
Discovering genes with mutations causal of pancreatic agenesis is crucial to identifying factors needed for pancreatic development. We identified a heterozygous missense mutation in CNOT1 (MIM: 604917; GenBank: NM_016284.4; c.1603C>T [p.Arg535Cys]) in three individuals with pancreatic agenesis.
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