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 Version imprimable |
Erythrokeratodermia variabilis: Report of two cases and a novel missense variant in
GJB4 encoding connexin 30.3 |
European Journal of Dermatology. Volume 22, Numéro 2, 182-6, March-April 2012, Genes and skin
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 Free Article
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Auteur(s) : Haris Kokotas, Konstantina Papagiannaki, Maria Grigoriadou, Michael B. Petersen, Alexandra Katsarou |
Résumé : Erythrokeratodermia variabilis (EKV) is characterized by migrating red patches resembling a geographical map, and by localized or generalized hyperkeratosis with scaling of the skin. The onset is usually at birth or during infancy, and the disease persists throughout life. EKV is mainly inherited as an autosomal dominant disease, although recessive transmission has occasionally been reported. Mutations associated with EKV have been identified in the connexin (Cx) genes
GJB3 (Cx31) and
GJB4 (Cx30.3), however, several cases of EKV have been tested negative for mutations in these two Cx genes. Here, we report our findings of the clinical, histological, and molecular examinations performed in two unrelated sporadic cases of EKV. The molecular screening involved bidirectional sequencing of the coding regions of the
GJB3 and
GJB4 genes and revealed the existence of a novel c.295G>A missense variant in the
GJB4 gene found in homozygosity in one case. The substitution was found to result in a p.E99K change of the Cx30.3 protein, an alteration predicted to have a benign rather than a damaging effect on the protein function. |
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