Department of Dermatology, Changxing Hospital, Huzhou, China.
Department of Stomatology, The First Affiliated Hospital of Huzhou University, Huzhou, China.
J Dermatol. 2019 Feb;46(2):154-157. doi: 10.1111/1346-8138.14727. Epub 2018 Dec 19.
Vohwinkel syndrome (VS) is a rare autosomal dominant condition, also known as mutilating palmoplantar keratoderma accompanied by sensorineural deafness. The LOR and GJB2 genes are reported to be responsible for VS. The GJB2 gene encodes connexin 26, a component of intercellular gap junctions expressed in various tissues. We report the case of a 31-year-old Chinese woman with classic VS characterized by sensorineural deafness and mutilating palmoplantar keratoderma. Further genetic studies demonstrated a nucleotide change (c.175G>A) in the GJB2 gene, leading to an amino acid alteration (G59S). This identical missense mutation (G59S) has also been reported in a patient with Bart-Pumphrey syndrome. Together with our findings and previous studies, we conclude that the identical mutation (G59S) in the GJB2 gene contributes to various manifestations.
Vohwinkel 综合征（VS）是一种罕见的常染色体显性遗传病，也称为伴有感觉神经性耳聋的破坏性手掌足底角化过度症。LOR 和 GJB2 基因被报道与 VS 有关。GJB2 基因编码连接蛋白 26，是细胞间缝隙连接的组成部分，在多种组织中表达。我们报告了一例 31 岁的中国女性患者，具有典型的 VS 特征，表现为感觉神经性耳聋和破坏性手掌足底角化过度症。进一步的基因研究显示 GJB2 基因中的核苷酸变化（c.175G>A），导致氨基酸改变（G59S）。该相同的错义突变（G59S）也已在 Bart-Pumphrey 综合征患者中报道。结合我们的发现和以前的研究，我们得出结论，GJB2 基因中的相同突变（G59S）导致了各种表现。
