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Article

Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome.

American journal of human genetics - 6 Apr 2012

Ng Bobby G, Hackmann Karl, Jones Melanie A, Eroshkin Alexey M, He Ping, Wiliams Roy, Bhide Shruti, Cantagrel Vincent, Gleeson Joseph G, Paller Amy S, Schnur Rhonda E, Tinschert Sigrid, Zunich Janice, Hegde Madhuri R, Freeze Hudson H

Abstract excerpt

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 glyc...

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Source

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Identifiers

PMID: 22444671
DOI: 10.1016/j.ajhg.2012.02.010
PMCID: PMC3322218

Genes

GPI
PIGL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22444671-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

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Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome.PMID 22444671Read ↗

Mutations in PIGL in a patient with Mabry syndromeSemantic proximity Read ↗

Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies.Semantic proximity Read ↗

Hypotonia and intellectual disability without dysmorphic features in a patient with PIGN-related disease.Semantic proximity Read ↗

A novel PIGN mutation and prenatal diagnosis of inherited glycosylphosphatidylinositol deficiencySemantic proximity Read ↗

Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders.Semantic proximity Read ↗

PIGO deficiency: palmoplantar keratoderma and novel mutations.Semantic proximity Read ↗

Congenital disorder of glycosylphosphatidylinositol (GPI)-anchor biosynthesis--The phenotype of two patients with novel mutations in the PIGN and PGAP2 genes.Semantic proximity Read ↗

A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT.Semantic proximity Read ↗

PIGQ-Related Glycophosphatidylinositol Deficiency Associated with Nonprogressive Congenital Ataxia.Semantic proximity Read ↗

Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation.Semantic proximity Read ↗

Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability.Semantic proximity Read ↗

A PIGH mutation leading to GPI deficiency is associated with developmental delay and autism.Semantic proximity Read ↗

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