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c.336-2A>G variant in PIGL associated with developmental disorder resulted in exon skipping.
these findings indicate that patients with a clinical diagnosis of CHIME syndrome and a single identifiable mutation in PIGL warrant further investigation for copynumber changes involving
Whole-exome sequencing on five previously reported CHIME cases identified PIGL (N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase) as required for glycosylphosphatidylinositol anchor formation.
This gene encodes an enzyme that catalyzes the second step of glycosylphosphatidylinositol (GPI) biosynthesis, which is the de-N-acetylation of N-acetylglucosaminylphosphatidylinositol (GlcNAc-PI). Study of a similar rat enzyme suggests that this protein localizes to the endoplasmic reticulum.
, N-acetylglucosaminylphosphatidylinositol deacetylase
, phosphatidylinositol glycan, class L
, phosphatidylinositol-glycan biosynthesis class L protein
, ortholog of human and rat phosphatidylinositol glycan class L PIGL