Palmoplantar keratoderma (PPK) is a heterogenous group of skin disorders characterized by a persistent thickening of the palms of the hands and sometimes soles of the feet. PPK can be classified into many types, including diffuse, transgradient, and focal or striate, where the areas of palmoplantar skin are alternatively thickened. Mutations in four main genes, keratin 9 (KRT9), keratin 1 (KRT1), desmoglein (DSG1), and desmoplakin (DSP), have been associated with PPK. Striate PPK (SPPK) is commonly caused by mutations in DSG1. However, DSP and KRT1 gene mutations have been identified in some cases. In this study, fragment and sequencing analysis were performed for a large Syrian family with dominant SPPK. Segregation analysis showed a linkage with DSG1 gene. Direct Sanger sequencing identified a new mutation c.dup165_168AGCA. This frameshift mutation was heterozygous in all affected family members and absent in all normal individuals.

中文翻译：

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DSG1 基因的新突变导致叙利亚大家庭常染色体显性条纹掌跖角化病

掌跖角化病 (PPK) 是一组异质性皮肤病，其特征是手掌持续增厚，有时是脚底。PPK 可分为多种类型，包括弥漫型、跨梯度型和局灶性或条纹型，其中掌跖皮肤区域交替增厚。四个主要基因，角蛋白 9 (KRT9)、角蛋白 1 (KRT1)、桥粒芯蛋白 (DSG1) 和桥粒蛋白 (DSP) 的突变与 PPK 相关。条纹 PPK (SPPK) 通常由 DSG1 中的突变引起。然而，在某些情况下已经确定了 DSP 和 KRT1 基因突变。在这项研究中，对一个具有显性 SPPK 的叙利亚大家庭进行了片段和测序分析。分离分析显示与 DSG1 基因连锁。直接 Sanger 测序鉴定了一个新的突变 c.dup165_168AGCA。