2. Academic Validation
  3. Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome

Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome

  • Am J Hum Genet. 2012 Apr 6;90(4):685-8. doi: 10.1016/j.ajhg.2012.02.010.
Bobby G Ng 1,  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
Affiliations

Affiliation

  • 1 Genetic Disease Program, Sanford Children's Health Research Center, Sanford-Burnham Medical Research Institute, La Jolla, CA 92037, USA.
PMID: 22444671 DOI: 10.1016/j.ajhg.2012.02.010
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.

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