Journal
EXPERIMENTAL DERMATOLOGY
Volume 31, Issue 4, Pages 594-599Publisher
WILEY
DOI: 10.1111/exd.14490
Keywords
connexin 30.3; erythrokeratodermia variabilis et progressiva; fluorescent antibody technique; GJB4; transfection
Categories
Funding
- Program of Science and Technology Commission of Shanghai Municipality [18140901800]
- Clinical Research Plan of SHDC [SHDC12018X06, SHDC2020CR1014B]
- Excellent Subject Leader Program of Shanghai Municipal Commission of Health and Family Planning [2018BR30]
- Innovation Program of Shanghai Municipal Education Commission [2019-01-07-00-07-E00046]
- National Natural Science Foundation of China [81602751, 81673052, 81803120, 81872522, 82073429, 82173405]
- Program of Shanghai Academic Research Leader [20XD1403300]
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Erythrokeratodermia variabilis et progressiva (EKVP) is a rare genodermatosis characterized by hyperkeratotic plaques and erythematous patches, primarily inherited in an autosomal dominant manner. Mutations associated with EKVP are mainly found in connexin genes. A Chinese case of late-onset EKVP with a novel heterozygous missense mutation in the GJB4 gene is reported here, revealing the essential role of GJB4 in the disease pathogenesis.
Erythrokeratodermia variabilis et progressiva (EKVP) is a rare genodermatosis of clinical and genetic heterogeneity, characterized by the manifestations of localized or disseminated persistent hyperkeratotic plagues and stationary to migratory transient erythematous patches. The majority of EKVP cases display an autosomal dominant mode of inheritance with incomplete penetrance, although recessive transmission has also been described. Mutations associated with EKVP have been primarily detected in connexin (Cx) genes. We herein reported a Chinese sporadic case of late-onset EKVP with a novel heterozygous missense mutation c.109G>A (p.V37M) in GJB4 (Cx30.3) gene, which resulted in a significant reduction of GJB4 expression in the epidermis of the patient. In accordance, while wild-type GJB4 localized at the cell membrane of HeLa cells forming intercellular junctions and intracellular puncta, V37M mutant variant was diffusely expressed within HeLa cells at a considerably lower level. Our findings reveal an essential role of GJB4 in the pathogenesis of EKVP and provides insights into the therapeutic potential of the disease.
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