Erythrokeratodermia variabilis et progressiva due to a novel mutation in GJB4.

Autor: Zhang X; Department of Dermatology, Shanghai Skin Disease Hospital, School of Medicine, Tongji University, Shanghai, China.; Institute of Psoriasis, School of Medicine, Tongji University, Shanghai, China., Xu P; Institute of Psoriasis, School of Medicine, Tongji University, Shanghai, China.; Department of Dermatology, Shanghai Tenth People's Hospital, School of Medicine, Tongji University, Shanghai, China., Lu J; Department of Dermatology, Shanghai Skin Disease Hospital, School of Medicine, Tongji University, Shanghai, China.; Institute of Psoriasis, School of Medicine, Tongji University, Shanghai, China., Ding Y; Department of Dermatology, Shanghai Skin Disease Hospital, School of Medicine, Tongji University, Shanghai, China.; Institute of Psoriasis, School of Medicine, Tongji University, Shanghai, China., Gu J; Department of Dermatology, Shanghai Skin Disease Hospital, School of Medicine, Tongji University, Shanghai, China.; Institute of Psoriasis, School of Medicine, Tongji University, Shanghai, China.; Department of Dermatology, Shanghai Tenth People's Hospital, School of Medicine, Tongji University, Shanghai, China., Shi Y; Department of Dermatology, Shanghai Skin Disease Hospital, School of Medicine, Tongji University, Shanghai, China.; Institute of Psoriasis, School of Medicine, Tongji University, Shanghai, China.
Jazyk: angličtina
Zdroj: Experimental dermatology [Exp Dermatol] 2022 Apr; Vol. 31 (4), pp. 594-599. Date of Electronic Publication: 2021 Nov 07.
DOI: 10.1111/exd.14490
Abstrakt: 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.
(© 2021 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)
Databáze: MEDLINE
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