The FBN2 Gene: New Mutations, Locus-Specific Database (Universal Mutation Database FBN2), and Genotype-Phenotype Correlations
The FBN2 Gene: New Mutations, Locus-Specific Database (Universal Mutation Database FBN2), and Genotype-Phenotype Correlations
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DOI：
10.1002/humu.20794
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发表时间：
2009-02-01
期刊：
影响因子：
3.9
通讯作者：
Collod-Beroud, Gwenaelle
中科院分区：
文献类型：
--
作者：
Frederic, Melissa Yana;Monino, Christine;Collod-Beroud, Gwenaelle
先天性挛缩性蜘蛛状指（CCA）是一种非常罕见的疾病，由于FBN 2基因编码的突变。FBN家族的另一个成员，FBN 1基因，参与了包括马凡氏综合征在内的广泛的结缔组织疾病的表型连续体。不仅要确定这两种蛋白质的共同点，还要确定它们的区别，这将使我们能够更好地理解它们各自的功能，更好地理解这两种基因所涉及的多种疾病。1995年，我们使用通用突变数据库（UMD）工具创建了FBN 1突变的基因座特异性数据库（LSDB）。为了便于比较这两个基因中已鉴定的突变并搜索特定的功能区域，我们为FBN 2基因创建了一个LSDB：UMD-FBN 2数据库。该数据库列出了26个已发表的突变和6个新发现的突变，主要包括错义和剪接位点突变。虽然所描述的FBN 2突变的数量很低，但与剪接位点突变相比，错义突变的关节脱位频率显著更高。该数据库可在http://umd.be上免费查阅。
Congenital contractural arachnodactyly (CCA) is an extremely rare disease, due to mutations in the FBN2 gene encoding fibrillin-2. Another member of the fibrillin family, the FBN1 gene, is involved in a broad phenotypic continuum of connective-tissue disorders including Marfan syndrome. Identifying not only what is in common but also what differentiates these two proteins should enable us to better comprehend their respective functions and better understand the multitude of diseases in which these two genes are involved. In 1995 we created a locus-specific database (LSDB) for FBN1 mutations with the Universal Mutation Database (UMD) tool. To facilitate comparison of identified mutations in these two genes and search for specific functional areas, we created an LSDB for the FBN2 gene: the UMD-FBN2 database. This database lists 26 published and six newly identified mutations that mainly comprise missense and splice-site mutations. Although the number of described FBN2 mutations was low, the frequency of joint dislocation was significantly higher with missense mutations when compared to splice site mutations. The database is freely available at http://umd.be.