Mutations in the Glycosylphosphatidylinositol Gene PIGL Cause CHIME Syndrome

被引：100

作者：

Ng, Bobby G. ^{[1
]}

Hackmann, Karl ^{[2
]}

Jones, Melanie A. ^{[3
]}

Eroshkin, Alexey M. ^{[1
]}

He, Ping ^{[1
]}

Wiliams, Roy ^{[1
]}

Bhide, Shruti ^{[3
]}

Cantagrel, Vincent ^{[4
]}

Gleeson, Joseph G. ^{[4
]}

Paller, Amy S. ^{[5
]}

Schnur, Rhonda E. ^{[6
]}

Tinschert, Sigrid ^{[2
]}

Zunich, Janice ^{[7
]}

Hegde, Madhuri R. ^{[3
]}

Freeze, Hudson H. ^{[1
]}

机构：

[1] Sanford Burnham Med Res Inst, Sanford Childrens Hlth Res Ctr, Genet Dis Program, La Jolla, CA 92037 USA

[2] Tech Univ Dresden, Med Fak Carl Gustav Carus, Inst Klin Genet, D-01307 Dresden, Germany

[3] Emory Univ, Sch Med, Dept Human Genet, Atlanta, GA 30322 USA

[4] Univ Calif San Diego, Howard Hughes Med Inst, Dept Neurosci & Pediat, Neurogenet Lab,Inst Genom Med, La Jolla, CA 92093 USA

[5] Northwestern Univ, Feinberg Sch Med, Dept Dermatol, Chicago, IL 60611 USA

[6] Rowan Univ, Cooper Med Sch, Dept Pediat, Div Genet, Camden, NJ 08103 USA

[7] Indiana Univ Sch Med NW, Genet Ctr, Gary, IN 46408 USA

来源：

AMERICAN JOURNAL OF HUMAN GENETICS | 2012年 / 90卷 / 04期

关键词：

GPI ANCHOR; DEFICIENCY;

D O I：

10.1016/j.ajhg.2012.02.010

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

CHIME syndrome is characterized by colobomas, heart defects, ichthyosiform dermatosis, mental retardation (intellectual disability), and ear anomalies, including conductive hearing loss. Whole-exome sequencing on five previously reported cases identified PIGL, the de-N-acetylase required for glycosylphosphatidylinositol (GPI) anchor formation, as a strong candidate. Furthermore, cell lines derived from these cases had significantly reduced levels of the two GPI anchor markers, CD59 and a GPI-binding toxin, aerolysin (FLAER), confirming the pathogenicity of the mutations.

引用

页码：685 / 688

页数：4

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