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已发表论文
中国经典型 Vohwinkel 综合征患者 GJB2 基因 E114G 新发突变
Received 29 September 2025
Accepted for publication 18 December 2025
Published 7 February 2026 Volume 2026:19 563988
DOI https://doi.org/10.2147/IMCRJ.S563988
Checked for plagiarism Yes
Review by Single anonymous peer review
Peer reviewer comments 2
Editor who approved publication: Professor Thomas E Hutson
Bin Chen,1 Xiaoqing Xu,2,3 Fusheng Zhou2,3
1Department of Dermatology, Lujiang County People’s Hospital, Hefei, Anhui, People’s Republic of China; 2Department of Dermatology and Venereology, The First Affiliated Hospital of Anhui Medical University, Hefei, Anhui, 230032, People’s Republic of China; 3Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education, China, Hefei, Anhui, 230032, People’s Republic of China
Correspondence: Fusheng Zhou, Email biozhoufs@163.com
Abstract: Vohwinkel syndrome (VS) is a rare autosomal dominant form of palmoplantar keratoderma (PPK), characterized by diffuse hyperkeratosis of the palms and soles, starfish-shaped keratotic lesions, and pseudo-ainhum. Mutations in GJB2 have been implicated in VS pathogenesis. In this study, Sanger sequencing of the GJB2 coding exons and exon-intron boundaries was performed in a Chinese patient with VS. A missense mutation c.341A>G (E114G) was also identified. This finding expands the mutational spectrum of VS and provides further insight into its genetic basis, which may facilitate improved genetic screening and counseling of affected families.
Keywords: Vohwinkel syndrome, GJB2 mutation
1Department of Dermatology, Lujiang County People’s Hospital, Hefei, Anhui, People’s Republic of China; 2Department of Dermatology and Venereology, The First Affiliated Hospital of Anhui Medical University, Hefei, Anhui, 230032, People’s Republic of China; 3Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education, China, Hefei, Anhui, 230032, People’s Republic of China
Correspondence: Fusheng Zhou, Email biozhoufs@163.com
Abstract: Vohwinkel syndrome (VS) is a rare autosomal dominant form of palmoplantar keratoderma (PPK), characterized by diffuse hyperkeratosis of the palms and soles, starfish-shaped keratotic lesions, and pseudo-ainhum. Mutations in GJB2 have been implicated in VS pathogenesis. In this study, Sanger sequencing of the GJB2 coding exons and exon-intron boundaries was performed in a Chinese patient with VS. A missense mutation c.341A>G (E114G) was also identified. This finding expands the mutational spectrum of VS and provides further insight into its genetic basis, which may facilitate improved genetic screening and counseling of affected families.
Keywords: Vohwinkel syndrome, GJB2 mutation