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Erythrokeratoderma variabilis caused by a recessive mutation in GJB3.

D Fuchs-Telem¹, Y Pessach, B Mevorah

¹Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.

Clinical and Experimental Dermatology

|May 14, 2011

Summary

Recessive Erythrokeratoderma variabilis (EKV) in a Middle Eastern family resulted from a novel GJB3 gene mutation. This mutation disrupts connexin 31 function, impacting epidermal gap junctions.

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Area of Science:

Genetics
Dermatology
Molecular Biology

Background:

Erythrokeratoderma variabilis (EKV) is a rare disorder of cornification.
It is typically linked to dominant mutations in GJB3 and GJB4 genes, encoding connexins (Cx)31 and Cx30.3.
These connexins are crucial for epidermal gap junction formation.

Observation:

A consanguineous family of Middle Eastern origin presented with recessive EKV.
Genetic analysis identified a novel missense mutation (c.G88A) in the GJB3 gene.
This mutation leads to an isoleucine to valine substitution at position 30 (p.V30I) in the connexin 31 protein.

Findings:

The identified p.V30I mutation in GJB3 was found to be the molecular basis of recessive EKV in this family.
In vitro studies demonstrated that the p.V30I mutation impairs the ability of connexin 31 to reach the cell membrane.
This impairment prevents the formation of functional gap junctions.

Implications:

Autosomal recessive inheritance is a possible mode of EKV transmission, particularly in consanguineous populations.
Genetic counseling for families at risk of EKV should consider recessive inheritance patterns.
Understanding the molecular basis of EKV expands knowledge of connexin function and epidermal biology.