Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome.

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.

SUBMITTER: Ng BG 

PROVIDER: S-EPMC3322218 | biostudies-literature | 2012 Apr

REPOSITORIES: biostudies-literature