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題名 | A Novel Splicing Mutation of the CYLD Gene in a Taiwanese Family with Multiple Familial Trichoepithelioma=多發性家族性毛髮上皮瘤的基因突變研究:一臺灣家族之新疊接基因突變分析 |
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作者 | 林建德; 李玉雲; 趙曉秋; | 書刊名 | 中華皮膚科醫學雜誌 |
卷期 | 25:2 2007.06[民96.06] |
頁次 | 頁128-131 |
分類號 | 415.78 |
關鍵詞 | 多發性家族性毛髮上皮瘤; 家族性圓柱瘤; CYLD基因; Multiple familial trichoepithelioma; Familial cylindromatosis; CYLD gene; Splicing mutation; |
語文 | 英文(English) |
中文摘要 | 多發性家族性毛髮上皮瘤為一體染色體顯性遺傳之皮膚疾病,臨床表現為在臉部中央出現許多由毛囊分化而來的多發性肉色丘疹及結節。引起家族性圓柱瘤之CYLD基因,最近幾年亦在許多臨床表現出多發性家族性毛髮上皮瘤的家族中被發現突變點。CYLD蛋白質扮演著抑制轉錄因子NF-κB由活性的角色,當其有缺陷時,即可能引起腫瘤生成。吾人報告一例典型多發性家族性毛髮上皮瘤的臺灣家族,由其成員的基因突變分析研究,發現一個新的基因疊接突變。 |
英文摘要 | Multiple familial trichoepithelioma (MFT) is an autosomal dominant skin disorder that is characterized by childhood onset of numerous skin-colored papules and nodules on the central face that originate from hair follicles. Mutations in CYLD, the disease gene of familial cylindromatosis, have recently been detected in several families presented with MFT phenotype. CYLD has been shown to be a tumor suppressor gene. CYLD functions as a negative regulator of the transcription factor NF-κB, which protects against apoptosis, and inactivation or mutation of the CYLD gene contributes to oncogenesis. Here, we report a novel splicing mutation (IVS16+1G>T) in the CYLD gene in a Taiwanese family with MFT. |
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