A new locus-specifflic database (LSDB) for mutations in the TGFBR2 Gene:: UMD-TGFBR2

被引：21

作者：

Frederic, Melissa Yana ^{[1
,2
]}

Hamroun, Dalil ^{[3
]}

Faivre, Laurence ^{[4
]}

Boileau, Catherine ^{[5
,6
,7
]}

Jondeau, Guillaume ^{[6
,8
]}

Claustres, Mireille ^{[1
,2
,3
]}

Beroud, Christophe ^{[1
,2
,3
]}

Collod-Beroud, Gwenaelle ^{[1
,2
]}

机构：

[1] INSERM, U 827, F-34000 Montpellier, France

[2] Univ Montpellier I, Unite Fonct Rech Med, Genet Mol Lab, F-34000 Montpellier, France

[3] Hop Arnaud Villeneuve, Genet Mol Lab, CHU Montpellier, F-34000 Montpellier, France

[4] CHU Dijon, Ctr Genet, F-21000 Dijon, France

[5] INSERM, U 781, F-75015 Paris, France

[6] Univ Versailles St Quentin En Yvelines, UFR, PIFO, F-92000 Garches, France

[7] Hop Ambroise Pare, AP HP, Lab Biochim Hormonol & Genet Mol, F-92000 Boulogne, France

[8] Hop Bichat Claude Bernard, AP HP, F-75000 Paris, France

来源：

HUMAN MUTATION | 2008年 / 29卷 / 01期

关键词：

TGFBR2; TGF beta signalopathies; Marfan syndrome; Loeys Dietz syndrome; locus-specific database;

D O I：

10.1002/humu.20602

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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: July 2007).

引用

页码：33 / 38

页数：6

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