Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome

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 R. Hegde, Hudson H. Freeze

Research output: Contribution to journalArticle

88 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)685-688
Number of pages4
JournalAmerican Journal of Human Genetics
Volume90
Issue number4
DOIs
StatePublished - Apr 6 2012

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Ng, B. G., Hackmann, K., Jones, M. A., Eroshkin, A. M., He, P., Wiliams, R., Bhide, S., Cantagrel, V., Gleeson, J. G., Paller, A. S., Schnur, R. E., Tinschert, S., Zunich, J., Hegde, M. R., & Freeze, H. H. (2012). Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome. American Journal of Human Genetics, 90(4), 685-688. https://doi.org/10.1016/j.ajhg.2012.02.010