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

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

JOURNAL=Frontiers in Genetics

VOLUME=11

YEAR=2021

URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2020.604806

DOI=10.3389/fgene.2020.604806

ISSN=1664-8021

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