頁籤選單縮合
題 名 | Werner's Syndrome--A Case Report and Mutation Analysis=沃納氏徵候群--報告一典型病例及其家族基因突變之研究 |
---|---|
作 者 | 陳冠宇; 許漢銘; 趙曉秋; | 書刊名 | 中華皮膚科醫學雜誌 |
卷 期 | 20:3 2002.09[民91.09] |
頁 次 | 頁186-191 |
分類號 | 415.148 |
關鍵詞 | 沃納氏徵候群; 自體隱性遺傳疾病; Werner's syndrome; Autosomal recessive; Mutation analysis; WS gene; |
語 文 | 英文(English) |
中文摘要 | 沃納氏徵候群為自體隱性遺傳疾病,合併有早熟性老化及癌症。患者為33歲男性,右腳出現無法癒合的傷口已二年,外觀比實際年齡老,長不高,體重輕,頭髮稀疏,長不出鬍子,高頻的音調,鳥樣臉,皮下脂肪萎縮,足底有胼胝,指甲萎縮,白內障,糖尿病和性腺機能不足。此症之連環遺傳分析於1996年發現WS gene(WRN)位於第八對染色體(8p11-21)的短臂上。我們經由核酸定序做基因突變分析,發現在患者intron 25內核甘酸IVS 25+6的地方發生C-to-T移位的homozygous的新突變。病券媽媽及哥哥在同樣的位置表現出C-to-T移至的heterozygous突變。此症日本人的盛行率大約為三十萬分之一。相關的腫瘤大多為非上皮性惡性腫瘤,特別是肉瘤。臨床醫師必須牢記這些患者為癌症的高危險群。 |
英文摘要 | Werner’s syndrome is an autosomal recessive disorder causing premature aging and cancers. A 33- year-old male suffered from unhealing wound on right foot for 2 years. He looked older than his age, with short stature, light body weight, thin hair, balding of beard, high-pitched voice, bird-like face, atrophy of the subcutaneous fat tissue, calluses on the sole, toe nails dystrophy, cataract, diabetes mellitus, and hypogonadism. Linkage analysis revealed that the WS gene (WRN) was localized to the short arm of chromosome 8 (8p11-21) and was cloned in 1996. Mutational analysis of the proband showed a novel homozygous mutation of C-to-T transition at nucleotide IVS 25+6 within the intron 25. The mother and brother showed heterozygous of C-to-T transition in the same position. The estimated prevalence was 1:300000 for the Japanese. The incidence of neoplasia has been associated with an excess of non-epithelial malignant tumors , especially sarcomas. Clinicians must keep in mind their high risk for cancers. |
本系統中英文摘要資訊取自各篇刊載內容。