Aims: The pathogenic variant, p.GLY428Asp (c.1283G-A), in the epidermal growth factor receptor (EGFR) gene causes neonatal inflammatory skin and bowel disease 2, a disorder that is lethal during infancy due to skin infections and sepsis. This variant seems to be restricted to people of Roma origin with the majority of patients thus far reported being from Slovakia or the Czech Republic. The aim of this study was to establish the frequency of this variant in the Roma population in Slovakia. Methods: A population sample of 1321 unrelated healthy individuals of Roma origin from Slovakia was tested for the p.GLY428Asp variant in EGFR gene by real-time PCR. Results: The carrier frequency in the Roma ethnic group was 2.65%. Conclusions: This is the first report of the frequency of this variant. A high frequency of carriers together with a significant number of patients reported previously proves the p.GLY428Asp variant in the EGFR gene is a major health concern of the Roma populations in Slovakia and neighboring regions.

中文翻译：

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罗姆人中表皮生长因子受体基因变异的频率。

目的：表皮生长因子受体 (EGFR) 基因中的致病性变异 p.GLY428Asp (c.1283G-A) 会导致新生儿炎症性皮肤和肠道疾病 2，这是一种因皮肤感染和败血症而在婴儿期致命的疾病。这种变异似乎仅限于罗姆人，迄今为止报告的大多数患者来自斯洛伐克或捷克共和国。本研究的目的是确定斯洛伐克罗姆人群体中这种变异的频率。方法：通过实时 PCR 检测 1321 名来自斯洛伐克的罗姆人无血缘关系健康个体的群体样本，检测 EGFR 基因中的 p.GLY428Asp 变异。结果：罗姆族人群的携带频率为2.65%。结论：这是该变异频率的第一份报告。先前报告的高频率携带者以及大量患者证明 EGFR 基因中的 p.GLY428Asp 变异是斯洛伐克及邻近地区罗姆人人口的主要健康问题。