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

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 con...

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Principais autores: Irene Sargiannidou, Violetta Christophidou-Anastasiadou, Andreas Hadjisavvas, George A. Tanteles, Kleopas A. Kleopa
Format: Artigo
Sprog:Inglês
Udgivet: Frontiers Media S.A. 2021-01-01
Serier:Frontiers in Genetics
Fag:
connexin43
GJA1 gene
oculodentodigital dysplasia
gap junctions
leukodystrophy
Online adgang:https://www.frontiersin.org/articles/10.3389/fgene.2020.604806/full
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