Erythrokeratodermia variabilis et progressiva allelic to oculo-dento-digital dysplasia.

Abstract

Erythrokeratodermia variabilis et progressiva (EKVP) is a genodermatosis with clinical and genetic heterogeneity, most often transmitted in an autosomal dominant manner, caused by mutations in GJB3 and GJB4 genes encoding connexins (Cx)31 and 30.3, respectively. In this issue, Boyden et al. (2015) report for the first time de novo dominant mutations in GJA1 encoding the ubiquitous Cx43 in patients with EKVP. These results expand the genetic heterogeneity of EKVP and the human disease phenotypes associated with GJA1 mutations. They disclose that EKVP is allelic to oculo-dento-digital dysplasia, a rare syndrome previously known to be caused by dominant GJA1 mutations.

• Authors: Sabine Duchatelet, Alain Hovnanian
• Journal: The Journal of investigative dermatology (J Invest Dermatol) Vol. 135 Issue 6 Pg. 1475-1478 (Jun 2015) ISSN: 1523-1747 [Electronic] United States
• PMID: 25964267 (Publication Type: Journal Article, Comment)

Chemical References

• Connexin 43

Topics

• Connexin 43 (genetics)
• Craniofacial Abnormalities (genetics)
• Erythrokeratodermia Variabilis (genetics)
• Eye Abnormalities (genetics)
• Female
• Foot Deformities, Congenital (genetics)
• Humans
• Male
• Mutation
• Skin Diseases (genetics)
• Syndactyly (genetics)
• Tooth Abnormalities (genetics)