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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

相似文献

[1]
A Specific CNOT1 Mutation Results in a Novel Syndrome of Pancreatic Agenesis and Holoprosencephaly through Impaired Pancreatic and Neurological Development.

Am J Hum Genet. 2019-4-18

[2]
Fetal Description of the Pancreatic Agenesis and Holoprosencephaly Syndrome Associated to a Specific Variant.

Pediatr Dev Pathol. 2022

[3]
CNOT1 p.Arg535Cys variant in holoprosencephaly with late onset diabetes mellitus.

Am J Med Genet A. 2024-12

[4]
A CCR4-NOT Transcription Complex, Subunit 1, CNOT1, Variant Associated with Holoprosencephaly.

Am J Hum Genet. 2019-4-18

[5]
Pancreas and gallbladder agenesis in a newborn with semilobar holoprosencephaly, a case report.

BMC Med Genet. 2017-5-19

[6]
Congenital hypothyroidism, cardiac defects, and pancreatic agenesis in an infant with GATA6 mutation.

Am J Med Genet A. 2020-6

[7]
Novel GATA6 mutations in patients with pancreatic agenesis and congenital heart malformations.

PLoS One. 2015-2-23

[8]
[Cerebral malformation in the newborn: holoprosencephaly and agenesis of the corpus callosum].

Rev Neurol. 2003

[9]
Pancreatic Agenesis due to Compound Heterozygosity for a Novel Enhancer and Truncating Mutation in the PTF1A Gene.

J Clin Res Pediatr Endocrinol. 2017-9-1

[10]
Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis.

Nat Genet. 2013-11-10

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[2]
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[3]
Neonatal diabetes mellitus around the world: Update 2024.

J Diabetes Investig. 2024-12

[4]
Pancreas agenesis and fetal growth: a semi-quantitative analysis.

Endocr Connect. 2024-1-1

[5]
Mapping novel QTL and fine mapping of previously identified QTL associated with glucose tolerance using the collaborative cross mice.

Mamm Genome. 2024-3

[6]
Primate-specific ZNF808 is essential for pancreatic development in humans.

Nat Genet. 2023-12

[7]
Inferring regulators of cell identity in the human adult pancreas.

NAR Genom Bioinform. 2023-7-10

[8]
Diverse targets of SMN2-directed splicing-modulating small molecule therapeutics for spinal muscular atrophy.

Nucleic Acids Res. 2023-7-7

[9]
Quantitative Image Processing for Three-Dimensional Episcopic Images of Biological Structures: Current State and Future Directions.

Biomedicines. 2023-3-15

[10]
Monogenic diabetes.

Nat Rev Dis Primers. 2023-3-9

本文引用的文献

[1]
Pancreas and gallbladder agenesis in a newborn with semilobar holoprosencephaly, a case report.

BMC Med Genet. 2017-5-19

[2]
Insights into islet development and biology through characterization of a human iPSC-derived endocrine pancreas model.

Islets. 2016-4-18

[3]
GATA4 and GATA6 regulate pancreatic endoderm identity through inhibition of hedgehog signaling.

Development. 2016-3-1

[4]
Genome, Exome, and Targeted Next-Generation Sequencing in Neonatal Diabetes.

Pediatr Clin North Am. 2015-8

[5]
Development of the human pancreas from foregut to endocrine commitment.

Diabetes. 2013-4-29

[6]
Cnot1, Cnot2, and Cnot3 maintain mouse and human ESC identity and inhibit extraembryonic differentiation.

Stem Cells. 2012-5

[7]
GATA6 haploinsufficiency causes pancreatic agenesis in humans.

Nat Genet. 2011-12-11

[8]
The Deciphering Developmental Disorders (DDD) study.

Dev Med Child Neurol. 2011-8

[9]
Ectopic sonic hedgehog signaling impairs telencephalic dorsal midline development: implication for human holoprosencephaly.

Hum Mol Genet. 2007-6-15

[10]
Human Ccr4-Not complex is a ligand-dependent repressor of nuclear receptor-mediated transcription.

EMBO J. 2006-7-12

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