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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… Click to show full abstract
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.
Keywords:
cx43 variant;
gja1 cx43;
dysplasia;
novel gja1;
dysplasia syndrome
Journal Title: Frontiers in Genetics
Year Published: 2020
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Journal Title: Frontiers in Genetics
Year Published: 2020
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!