A Novel Deletion Mutation in the NF1 Gene in a Taiwanese Patient with Neurofibromatosis Type 1

第一型神經纖維瘤又稱為von Recklinghausen neurofibromatosis，是人類中最常見的體顯性遺傳疾病之一，最初是影響神經脊細胞，最終導致發展、色素及惡性變化等異常。NF1發生率約1/3500且一定會有臨床表徵。因為NF1基因很大，又有假基因及病灶有極大的變異性，使得突變基因的偵測有很高的困難度。我們在此報告一個20歲的女性患者，在求學時開始有NF1的表現，由基因突變分析發現一個新的單一核甘酸缺失突變(263delA)。

關鍵字

無資料

並列摘要

Neurofibromatosis type 1 (NF 1) or von Recklinghausen neurofibromatosis is one of the most common autosomal dominant disorders in humans, primarily affecting cells of neural crest origin and resulting in developmental, pigmentary, and neoplastic abnormalities. NF1 affecting 1 in 3500 individuals and fully penetrant. Mutation detection is complex due to the large size of NF1 gene, the presence of pseudogenes and the great variety of lesions. Here we presented a 20-year-old female patient who had NF1 manifestation in school age and gene analysis revealed a novel deletion mutation (263delA).

並列關鍵字

Neurofibromatosis 1 NF1 ； von Recklinghausen neurofibromatosis ； NF1 gene ； Cafe-au-lait macules

國際替代計量

A Novel Deletion Mutation in the NF1 Gene in a Taiwanese Patient with Neurofibromatosis Type 1

全文下載

主題瀏覽