Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22

被引：314

作者：

Quaderi, NA

Schweiger, S

Gaudenz, K

Franco, B

Rugarli, EI

Berger, W

Feldman, GJ

Volta, M

Andolfi, G

Gilgenkrantz, S

Marion, RW

Hennekam, RCM

Opitz, JM

Muenke, M

Ropers, HH

Ballabio, A

机构：

[1] TELETHON INST GENET & MED,I-20132 MILAN,ITALY

[2] MAX PLANCK INST MOL GENET,D-14195 BERLIN,GERMANY

[3] UNIV PENN,CHILDRENS HOSP PHILADELPHIA,SCH MED,DEPT PEDIAT,DIV HUMAN GENET & MOL BIOL,PHILADELPHIA,PA 19104

[4] MONTEFIORE MED CTR,ALBERT EINSTEIN COLL MED,DEPT PEDIAT,BRONX,NY 10467

[5] UNIV AMSTERDAM,INST HUMAN GENET,NL-1105 AZ AMSTERDAM,NETHERLANDS

[6] UNIV UTAH,DEPT PEDIAT HUMAN GENET & OBSTET & GYNECOL,SALT LAKE CITY,UT 84132

[7] CATHOLIC UNIV NIJMEGEN,DEPT HUMAN GENET,NL-6500 HB NIJMEGEN,NETHERLANDS

[8] UNIV PENN,CHILDRENS HOSP PHILADELPHIA,SCH MED,DEPT GENET,PHILADELPHIA,PA 19104

来源：

NATURE GENETICS | 1997年 / 17卷 / 03期

关键词：

D O I：

10.1038/ng1197-285

中图分类号：

Q3 [遗传学];

学科分类号：

071007 [遗传学]; 090102 [作物遗传育种];

摘要：

Opitz syndrome (OS) is an inherited disorder characterized by midline defects including hypertelorism, hypospadias, lip-palate-laryngotracheal clefts and imperforate anus. We have identified a new gene on Xp22, MIDI (Midline 1), which is disrupted in an OS patient carrying an X-chromosome inversion and is also mutated in several OS families. MID 1 encodes a member of the B-box family of proteins, which contain protein-protein interaction domains, including a RING finger, and are implicated in fundamental processes such as body axis patterning and control of cell proliferation. The association of MIDI with OS suggests an important role for this gene in midline development.

引用

页码：285 / 291

页数：7

共 62 条

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2 46,XX,T(X-Y) FEMALES WITH LINEAR SKIN DEFECTS AND CONGENITAL MICROPHTHALMIA, A NEW SYNDROME AT XP22.3 [J].