Mutations in the Glycosylphosphatidylinositol Gene PIGL Cause CHIME Syndrome | Zendy

Bobby G. Ng | Zendy; Karl Hackmann | Zendy; Melanie A. Jones | Zendy; Alexey M. Eroshkin | Zendy; Ping He | Zendy; Roy Wiliams | Zendy; Shruti Bhide | Zendy; Vincent Cantagrel | Zendy; Joseph G. Gleeson | Zendy; Amy S. Paller | Zendy; Rhonda E. Schnur | Zendy; Sigrid Tinschert | Zendy; Janice Zunich | Zendy; Madhuri Hegde | Zendy; Hudson H. Freeze | Zendy

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Mutations in the Glycosylphosphatidylinositol Gene PIGL Cause CHIME Syndrome

Author(s) -

Bobby G. Ng,

Karl Hackmann,

Melanie A. Jones,

Alexey M. Eroshkin,

Ping He,

Roy Wiliams,

Shruti Bhide,

Vincent Cantagrel,

Joseph G. Gleeson,

Amy S. Paller,

Rhonda E. Schnur,

Sigrid Tinschert,

Janice Zunich,

Madhuri Hegde,

Hudson H. Freeze

Publication year - 2012

Publication title -

the american journal of human genetics

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 6.661

H-Index - 302

eISSN - 1537-6605

pISSN - 0002-9297

DOI - 10.1016/j.ajhg.2012.02.010

Subject(s) - aerolysin , exome sequencing , genetics , gene , mutation , biology , virulence

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.

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