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与眼-牙-指发育不全综合征相关的新型变异体：临床表型和细胞机制

Novel Variant Associated With Oculo-Dento-Digital Dysplasia Syndrome: Clinical Phenotype and Cellular Mechanisms.

作者信息

Sargiannidou Irene, Christophidou-Anastasiadou Violetta, Hadjisavvas Andreas, Tanteles George A, Kleopa Kleopas A

机构信息

Department of Neuroscience, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.

Clinical Genetics Center, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.

出版信息

Front Genet. 2021 Jan 27;11:604806. doi: 10.3389/fgene.2020.604806. eCollection 2020.

DOI:10.3389/fgene.2020.604806
PMID:33584802
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7873484/
Abstract

Oculodentodigital dysplasia syndrome is associated with numerous pathogenic variants in , the gene encoding connexin43 gap junction protein. A novel in-frame deletion (p.Lys134del) was found in our clinic. The patient showed all the typical dysmorphic features of the syndrome. The functional consequences of this variant were also studied in an system. Cells expressed significantly less number of gap junction plaques with a great number of them retained intracellularly.

摘要

眼牙指发育不全综合征与编码连接蛋白43间隙连接蛋白的基因中的众多致病变异有关。我们诊所发现了一种新的框内缺失（p.Lys134del）。该患者表现出该综合征的所有典型畸形特征。还在一个系统中研究了这种变异的功能后果。细胞表达的间隙连接斑块数量明显减少，其中大量斑块保留在细胞内。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7a82/7873484/2dd316f34f6c/fgene-11-604806-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7a82/7873484/9c939d388c97/fgene-11-604806-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7a82/7873484/3963466b6022/fgene-11-604806-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7a82/7873484/4c2d5e20d6f4/fgene-11-604806-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7a82/7873484/2dd316f34f6c/fgene-11-604806-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7a82/7873484/9c939d388c97/fgene-11-604806-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7a82/7873484/3963466b6022/fgene-11-604806-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7a82/7873484/4c2d5e20d6f4/fgene-11-604806-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7a82/7873484/2dd316f34f6c/fgene-11-604806-g004.jpg

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Front Cell Dev Biol. 2020 Apr 2;8:215. doi: 10.3389/fcell.2020.00215. eCollection 2020.
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Connexins and Disease.连接蛋白与疾病。
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Golgi-retained Cx32 mutants interfere with gene addition therapy for CMT1X.高尔基体保留的Cx32突变体干扰CMT1X的基因添加疗法。
Hum Mol Genet. 2017 May 1;26(9):1622-1633. doi: 10.1093/hmg/ddx064.
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