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一种特定的 CNOT1 突变导致了一种新的综合征，表现为胰腺发育不全和前脑无裂畸形，其机制是通过损害胰腺和神经系统发育。

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

机构信息

Institute of Biomedical and Clinical Science, University of Exeter Medical School, EX2 5DW Exeter, UK.

Wellcome Sanger Institute, CB10 1SA Hinxton, UK.

出版信息

Am J Hum Genet. 2019 May 2;104(5):985-989. doi: 10.1016/j.ajhg.2019.03.018. Epub 2019 Apr 18.

DOI:10.1016/j.ajhg.2019.03.018
PMID:31006513
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6506862/
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.

摘要

我们报道了一个 CNOT1 基因的新生错义突变，GenBank: NM_016284.4; c.1603C>T (p.Arg535Cys)，该突变导致了三例个体出现胰腺发育不全和前脑发育异常的综合征，以及小鼠中出现类似的表型。CNOT1 是一种转录抑制剂，被认为对维持胚胎干细胞的多能状态至关重要。这些发现表明 CNOT1 在胰腺和神经发育中起着关键作用，并描述了一种新的胰腺发育不全和前脑无裂畸形的遗传综合征。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b9b0/6506862/0ea9e37b62cb/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b9b0/6506862/afaaec8acc0c/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b9b0/6506862/4b5780ead107/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b9b0/6506862/0ea9e37b62cb/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b9b0/6506862/afaaec8acc0c/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b9b0/6506862/4b5780ead107/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b9b0/6506862/0ea9e37b62cb/gr3.jpg

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