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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\u2010onset EKVP with a novel heterozygous missense mutation c.109G&gt;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\u2010type GJB4\u00a0localized 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.<\/jats:p>","DOI":"10.1111\/exd.14490","type":"journal-article","created":{"date-parts":[[2021,10,30]],"date-time":"2021-10-30T18:44:25Z","timestamp":1635619465000},"page":"594-599","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Erythrokeratodermia variabilis et progressiva due to a novel mutation in GJB4"],"prefix":"10.1111","volume":"31","author":[{"given":"Xilin","family":"Zhang","sequence":"first","affiliation":[{"name":"Department of Dermatology Shanghai Skin Disease Hospital, School of Medicine, Tongji University  Shanghai China"},{"name":"Institute of Psoriasis, School of Medicine Tongji University  Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peng","family":"Xu","sequence":"additional","affiliation":[{"name":"Institute of Psoriasis, 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