Abstract
A specific CNOT1 mutation results in a novel syndrome of pancreatic agenesis and holoprosencephaly through impaired pancreatic and neurological development
Highlights
COPYRIGHT AND REUSE Open Research Exeter makes this work available in accordance with publisher policies
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
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)
Summary
COPYRIGHT AND REUSE Open Research Exeter makes this work available in accordance with publisher policies. 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.
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