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首页> 外文期刊>Genetic testing and molecular biomarkers >Birt-Hogg-Dube Syndrome with a Novel Mutation in the FLCN Gene
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Birt-Hogg-Dube Syndrome with a Novel Mutation in the FLCN Gene

机译：Birt-Hogg-Dube综合症与小说的突变FLCN基因

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Background: Birt-Hogg-Dube syndrome (BHDS) is an autosomal dominant disease characterized by hair follicle hamartomas, kidney tumors, and spontaneous pneumothorax; its cause is a heterozygous mutation in the FLCN gene. Colorectal polyps and carcinoma have also been reported in BHDS. FLCN mutations can be detected in patients with isolated primary spontaneous pneumothorax (PSP), so PSP may present as part of BHDS. The aim of this report is to enhance awareness that patients presenting with spontaneous PSP should be evaluated for FLCN mutations. Materials and Methods: A 44-year-old woman with PSP and her parents were analyzed for FLCN mutations. One of the patient's paternal aunts had a PSP and two of her paternal aunts had colon cancer diagnosed at early ages. Results: A novel in-frame deletion in the FLCN gene, c.932_933delCT (P311Rfs*78), was detected in the proband and in her unaffected father. Conclusions: We recommend that molecular analysis of the FLCN gene be performed in patients with PSP and their families, and that mutation carriers be examined for kidney and colon tumors.
机译：背景:Birt-Hogg-Dube综合症(有限公司)是一个常染色体显性疾病,其特征是头发卵泡错构瘤,肾脏肿瘤自发性气胸;FLCN的杂合的突变基因。结直肠息肉和癌也在公司。孤立的主要患者自发的气胸(PSP),因此PSP可能存在的一部分有限公司。病人的意识自发的PSP FLCN应评估突变。分析了PSP的女人和她的父母FLCN突变。阿姨有一个PSP和她的的两个阿姨结肠癌早期诊断。小说在坐标系中删除FLCN基因,c.932_933delCT (P311Rfs * 78)发现的渊源者,在她父亲的影响。结论:我们建议分子分析FLCN基因的患者PSP和他们的家庭,突变航空公司是肾脏和结肠肿瘤的检查。

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