結節性硬化症患者的突變基因分析－病例報告

Mutation Analysis of TSC Gene in Tuberous Sclerosis Complex Patient-Case Report

何秋燕(Chiu-Yen Ho) ； 楊國材(Kuo-Chia Yang) ； 陳明(Ming Chen) ； 張舜評(Shun-Ping Chang)

《中華皮膚科醫學雜誌》 25卷4期 (2007/12) Pp. 265-273

https://doi.org/10.29784/DS.200712.0004

摘要

結節性硬化症為一體染色體顯性遺傳疾病，臨床上會在身體多處器官發現錯構瘤。有將近75的結節性硬化症患者其突變基因為散發性突變，且多被視為新發生的突變。目前已知有TSC1(9q34)以及TSC2(16p13)二個基因的突變會造成結節性硬化症。TSC1轉譯的蛋白為harmatin，TSC2轉譯的蛋白為tuberin，可調節細胞的分化及增生，目前皆亦歸類為腫瘤抑制基因。我們臨床上發現一位47歲女性患者有結節性硬化症，經由基因定序確認，在TSC2基因第9個外顯子(exon 9)發現有一個錯義突變(M286V)發生。在此，我們推測經由此病例所發現的錯義突變(M286V)與結節性硬化症可能有的相關性。

並列摘要

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by hamartomas in many organs. Two thirds of cases are sporadic and are thought to represent new mutations. TSC is caused by mutations affecting either of the presumed tumor-suppressor genes, TSC1 and TSC2. Both appear to function as tumor suppressors, because somatic loss or intragenic mutation of the corresponding wild-type allele is seen in the associated hamartomas. We found a 47 year-old female patient suffered from tuberous sclerosis. One new mutation (M286V) was recognized on TSC2 exon 9 after PCR sequencing from the tissue of the patient. So we report the missense mutation (M286V) as a possible cause of tuberous sclerosis.

並列關鍵字

Tuberous sclerosis complex ； TSC1 ； TSC2 ； Missense mutational gene