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首页> 外文OA文献 >The FH mutation database: an online database of fumarate hydratase mutations involved in the MCUL (HLRCC) tumor syndrome and congenital fumarase deficiency.
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The FH mutation database: an online database of fumarate hydratase mutations involved in the MCUL (HLRCC) tumor syndrome and congenital fumarase deficiency.

机译：FH突变数据库：涉及MCUL（HLRCC）肿瘤综合征和先天性富马酸酶缺乏症的富马酸盐水合酶突变的在线数据库。

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BACKGROUND: Fumarate hydratase (HGNC approved gene symbol - FH), also known as fumarase, is an enzyme of the tricarboxylic acid (TCA) cycle, involved in fundamental cellular energy production. First described by Zinn et al in 1986, deficiency of FH results in early onset, severe encephalopathy. In 2002, the Multiple Leiomyoma Consortium identified heterozygous germline mutations of FH in patients with multiple cutaneous and uterine leiomyomas, (MCUL: OMIM 150800). In some families renal cell cancer also forms a component of the complex and as such has been described as hereditary leiomyomatosis and renal cell cancer (HLRCC: OMIM 605839). The identification of FH as a tumor suppressor was an unexpected finding and following the identification of subunits of succinate dehydrogenase in 2000 and 2001, was only the second description of the involvement of an enzyme of intermediary metabolism in tumorigenesis. DESCRIPTION: The FH mutation database is a part of the TCA cycle gene mutation database (formerly the succinate dehydrogenase gene mutation database) and is based on the Leiden Open (source) Variation Database (LOVD) system. The variants included in the database were derived from the published literature and annotated to conform to current mutation nomenclature. The FH database applies HGVS nomenclature guidelines, and will assist researchers in applying these guidelines when directly submitting new sequence variants online. Since the first molecular characterization of an FH mutation by Bourgeron et al in 1994, a series of reports of both FH deficiency patients and patients with MCUL/HLRRC have described 107 variants, of which 93 are thought to be pathogenic. The most common type of mutation is missense (57%), followed by frameshifts and nonsense (27%), and diverse deletions, insertions and duplications. Here we introduce an online database detailing all reported FH sequence variants. CONCLUSION: The FH mutation database strives to systematically unify all current genetic knowledge of FH variants. We believe that this knowledge will assist clinical geneticists and treating physicians when advising patients and their families, will provide a rapid and convenient resource for research scientists, and may eventually assist in gaining novel insights into FH and its related clinical syndromes.
机译：背景：富马酸盐水合酶（HGNC批准的基因符号-FH），也称为富马酸酶，是三羧酸（TCA）循环的酶，参与基本的细胞能量产生。 Zinn等人于1986年首次描述，FH缺乏会导致早期发作，严重的脑病。 2002年，多发性平滑肌瘤协会在患有多发性皮肤和子宫平滑肌瘤的患者中发现了FH的杂合种系突变（MCUL：OMIM 150800）。在一些家庭中，肾细胞癌也形成了复合物的成分，因此已被描述为遗传性平滑肌瘤病和肾细胞癌（HLRCC：OMIM 605839）。将FH鉴定为抑癌药是一个出乎意料的发现，继在2000年和2001年鉴定出琥珀酸脱氢酶的亚基之后，FH仅是中介代谢酶参与肿瘤发生的第二种描述。描述：FH突变数据库是TCA周期基因突变数据库（以前称为琥珀酸脱氢酶基因突变数据库）的一部分，基于莱顿开放（源）变异数据库（LOVD）系统。数据库中包含的变体来自已出版的文献，并注释为符合当前的突变命名法。 FH数据库应用HGVS命名法指南，并在在线直接提交新的序列变体时协助研究人员应用这些指南。自Bourgeron等人于1994年首次对FH突变进行分子表征以来，有关FH缺乏症患者和MCUL / HLRRC患者的一系列报道已描述了107个变异体，其中93个被认为具有致病性。最常见的突变类型是错义（57％），其次是移码和无意义（27％），以及各种缺失，插入和重复。在这里，我们介绍一个在线数据库，其中详细介绍了所有报道的FH序列变体。结论：FH突变数据库致力于系统地统一当前FH变异的所有遗传知识。我们相信，这些知识将为临床遗传学家和治疗医师提供建议，为患者及其家属提供建议，将为研究科学家提供快速便捷的资源，并最终帮助获得有关FH及其相关临床综合征的新颖见解。

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