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

Autor:	Almuth Caliebe, De Franco E, Wong Cc, Inês Barroso, Catherine Tudor, Stefan H. Geyer, Robert Hilbrands, Lukas F. Reissig, Harry Heimberg, Sarah E. Flanagan, Andrew Green, Andrew T. Hattersley, Richard Caswell, Christopher J. Lelliott, Wolfgang Weninger, Rachel A. Watson, Fabrice Prin, Paul Martin Holterhus, Reiner Siebert, Asma Deeb, Barbara Maurer-Gesek, Lango Allen H, Sian Ellard
Přispěvatelé:	Lelliott, Christopher [0000-0001-8087-4530], Lango Allen, Hana [0000-0002-7803-8688], Barroso, Ines [0000-0001-5800-4520], Apollo - University of Cambridge Repository, Pathology/molecular and cellular medicine, Diabetes Clinic, Diabetes Pathology & Therapy, Beta Cell Neogenesis
Rok vydání:	2019
Předmět:	0301 basic medicine Male Developmental Disabilities Sequence Homology medicine.disease_cause Infant Newborn Diseases Mice 0302 clinical medicine Holoprosencephaly Missense mutation Genetics(clinical) genetics pancreas Genetics (clinical) health care economics and organizations Mice Knockout Mutation neurological diabetes Pancreatic agenesis Syndrome Phenotype 3. Good health Pedigree medicine.anatomical_structure Agenesis Mutation (genetic algorithm) Female Pancreas education 030209 endocrinology & metabolism agenesis neonatal 03 medical and health sciences Report medicine Animals Humans Amino Acid Sequence development business.industry Infant Newborn Infant Pancreatic Diseases medicine.disease Embryo Mammalian Embryonic stem cell 030104 developmental biology Forebrain Cancer research Nervous System Diseases business Transcription Factors
Zdroj:	American Journal of Human Genetics
Popis:	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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff8c789299d24d7eb5dc6d73bf65d611 https://www.repository.cam.ac.uk/handle/1810/290948 Zobrazit plný text záznamu