Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome.
basic_science · Level V
Where this comes from
- Record sourced from PubMed, PMID 22444671.
- Also identified by DOI 10.1016/j.ajhg.2012.02.010 and PMC identifier 3322218.
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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.
Medical subject headings
- Amidohydrolases
- Coloboma
- Hearing Loss, Conductive
- Heart Defects, Congenital
- Ichthyosis
- Intellectual Disability
- Mutation