A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome

被引：161

作者：

Risheg, Hiba

Graham, John M., Jr.

Clark, Robin D.

Rogers, R. Curtis

Opitz, John M.

Moeschler, John B.

Peiffer, Andreas P.

May, Melanie

Joseph, Sumy M.

Jones, Julie R.

Stevenson, Roger E.

Schwartz, Charles E.

Friez, Michael J. ^{[1
]}

机构：

[1] Greenwood Genet Ctr, Greenwood, SC 29646 USA

[2] Univ Calif Los Angeles, Cedars Sinai Med Ctr, Med Genet Inst, David Geffen Sch Med, Los Angeles, CA 90048 USA

[3] Loma Linda Univ, Dept Pediat, Childrens Hosp, Loma Linda, CA 92354 USA

[4] Univ Utah, Sch Med, Dept Pediat Med Genet Human Genet Pathol Obstet &, Salt Lake City, UT 84112 USA

[5] Dartmouth Hitchcock Med Ctr, Lebanon, NH 03756 USA

来源：

NATURE GENETICS | 2007年 / 39卷 / 04期

关键词：

D O I：

10.1038/ng1992

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Opitz-Kaveggia syndrome (also known as FG syndrome) is an X-linked disorder characterized by mental retardation, relative macrocephaly, hypotonia and constipation. We report here that the original family for whom the condition is named and five other families have a recurrent mutation (2881C > T, leading to R961W) in MED12 (also called TRAP230 or HOPA), a gene located at Xq13 that functions as a thyroid receptor associated protein in the Mediator complex.

引用

页码：451 / 453

页数：3

共 15 条

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