RettBASE:: The IRSA MECP2 variation data-base -: A new mutation database in evolution
RettBASE:: The IRSA MECP2 variation data-base -: A new mutation database in evolution
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DOI：
10.1002/humu.10194
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发表时间：
2003-05-01
期刊：
影响因子：
3.9
通讯作者：
Bennetts, B
中科院分区：
文献类型：
--
作者：
Christodoulou, J;Grimm, A;Bennetts, B
瑞特综合征（RTT）是一种主要影响女性的神经发育障碍，在女性中的发病率约为1/15000。1999年，在瑞特综合征患者中首次报道了X连锁基因甲基CpG结合蛋白2（MECP2）的突变，从那时起，有许多文献描述了患者群体及其突变情况。此外，在不符合瑞特综合征诊断标准的患者中也报道了MECP2突变。我们开发了一个新的位点特异性数据库，瑞特数据库（RettBASE）（http://mecp2.chw.edu.au/），它大致基于苯丙氨酸羟化酶数据库（PAHdb）网站。其目的是获取与所有已知的MECP2变异实例相关的数据，包括已发表的数据以及通过各种方式之一直接提交的数据（要么使用在线提交表格，要么将相同的表格以Adobe便携式文档格式（pdf）或Microsoft Word格式通过电子邮件或传真发送给数据库管理员）。该数据库具有一系列查询功能，允许对数据库进行简单或复杂的查询。为了解决患者保密性问题，我们采用了一种Excel电子表格算法，该算法可以根据受试者的姓名和出生日期生成一个唯一的编号。我们相信这个数据库将被证明是一个有用的资源，它可以用于开发致病突变的准确患病率数据，提供多态性的目录，并有可能得出更准确的表型 - 基因型相关性。（C）2003威利 - 利斯公司
Rett syndrome (RTT) is a neurodevelopmental disorder affecting primarily females, with an incidence of around 1 in 15,000 females. In 1999, mutations in the X-linked gene methyl CpG,binding protein 2 (MECP2) were first reported in RTT subjects, and since that time there have been a number of publications describing cohorts of patients and their mutations. In addition, MECP2 mutations have been reported in patients who do not fit the diagnostic criteria for Rett syndrome. We have developed a new locus,specific database, RettBASE (http://mecp2.chw.edu.au/), loosely based on the PAHdb website. The aim is to obtain data relating to all known instances of MECP2 variations, including published data and data directly submitted by one of various means (either by using an online submission form, or by sending the same form in Adobe portable document format (pdf) or Microsoft Word format by email or fax to the database curators). The database has a range of query capabilities, allowing for simple or complex interrogation of the database. To address the issue of patient confidentiality, we have incorporated an Excel spreadsheet algorithm that allows the generation of a unique number based on the subject's name and date of birth. We believe this database will prove to be a useful resource, allowing the development of accurate prevalence data for disease-causing mutations, providing a catalog of polymorphisms, and potentially allowing more accurate phenotype-genotype correlations to be drawn. (C) 2003 Wiley-Liss, Inc.