Mutations in the Glycosylphosphatidylinositol Gene PIGL Cause CHIME Syndrome

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.

Am J Hum Genet. 2012 Mar 27; 90(4):685-8

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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