Résumé
The implication of mutations in the TGFBR2 gene, known to be involved in cancers, in Marfan syndrome (MFS) and later in Loeys-Dietz syndrome (LDS) and Familial Thoracic Aortic Aneurysms and Dissections (TAAD2) gives a new example of the complexity of one gene involved in multiple diseases. To date, known TGFBR2 mutations are not disease-specific and many mutations have to be accumulated before genotype-phenotype relationships emerge. To facilitate mutational analysis of the TGFBR2 gene, a locus-specific database has been set up with the Universal Mutation Database (UMD) software. The version of the computerized database contains 85 entries. A total of 12 mutations are reported to be involved in MFS, six in incomplete MFS, 30 in LDS type I, 10 in LDS type II, seven in TAAD2, and 20 in various cancers. The database is accessible online at http://www.umd.be (last accessed: 3 July 2007).