Two de novo GJA1 mutation in two sporadic patients with erythrokeratodermia variabilis et progressiva.

ABSTRACT:

Background

Erythrokeratodermia variabilis et progressiva (EKVP, OMIM 133200) is a rare hereditary disorder characterized by varies from transient, fast moving erythema to persistent brown hyperkeratotic plaques. Recently, mutations in the genes gap junction alpha 1 gene (GJA1), GJB3, and GJB4 have been reported to cause EKVP. Here, we report the identification of two de novo missense mutations in the GJA1 gene in two unrelated individuals with EKVP.

Methods

The patients and his family members were subjected to mutation detection in the candidate gene GJA1, GJB3, and GJB4 by Sanger sequencing. The expression of connexin (Cx) 43 was detected by immunohistochemistry and immunofluorescence (IF) studies in the lesions.

Results

A 12-year-old boy presented with multiple hype

SUBMITTER: Li C 

PROVIDER: S-EPMC6565561 | biostudies-literature | 2019 Jun

REPOSITORIES: biostudies-literature