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Article

A PIGH mutation leading to GPI deficiency is associated with developmental delay and autism.

Human mutation - 1 Jun 2018

Nguyen Thi Tuyet Mai, Mahida Sonal, Smith-Hicks Constance, Campeau Philippe M

Abstract excerpt

We identified an individual with a homozygous missense variant (p.Ser103Pro) in a conserved residue of the glycosylphosphatidylinositol (GPI) biosynthesis gene PIGH. This gene encodes an essential component of the phosphatidylinositol N-acetylglucosaminyltransferase complex, in the first step of the biosynthesis of GPI, a glycolipid anchor added to more than one hundred human proteins, several being critical for...

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Source

Identifiers

PMID: 29603516
DOI: 10.1002/humu.23426

Genes

GPI
PIGH

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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A PIGH mutation leading to GPI deficiency is associated with developmental delay and autism.PMID 29603516Read ↗

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