Novel GJA1/Cx43 Variant Associated With Oculo-Dento-Digital Dysplasia Syndrome: Clinical Phenotype and Cellular Mechanisms

被引：2

作者：

Sargiannidou, Irene ^{[1
]}

Christophidou-Anastasiadou, Violetta ^{[2
,3
]}

Hadjisavvas, Andreas ^{[4
]}

Tanteles, George A. ^{[2
]}

Kleopa, Kleopas A. ^{[5
,6
]}

机构：

[1] Cyprus Inst Neurol & Genet, Dept Neurosci, Nicosia, Cyprus

[2] Cyprus Inst Neurol & Genet, Clin Genet Ctr, Nicosia, Cyprus

[3] Makarios Hosp, Dept Clin Genet, Nicosia, Cyprus

[4] Cyprus Inst Neurol & Genet, Dept Mol Pathol & Elect Microscopy, Nicosia, Cyprus

[5] Cyprus Inst Neurol & Genet, Ctr Neuromuscular Disorders, Nicosia, Cyprus

[6] Cyprus Inst Neurol & Genet, Cyprus Sch Mol Med, Ctr Multiple Sclerosis & Related Disorders, Nicosia, Cyprus

来源：

FRONTIERS IN GENETICS | 2021年 / 11卷

关键词：

connexin43; GJA1; gene; oculodentodigital dysplasia; gap junctions; leukodystrophy;

D O I：

10.3389/fgene.2020.604806

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Oculodentodigital dysplasia syndrome is associated with numerous pathogenic variants in GJA1, 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 in vitro system. Cells expressed significantly less number of gap junction plaques with a great number of them retained intracellularly.

引用

页数：7

共 29 条

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