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Article

PIGH deficiency can be associated with severe neurodevelopmental and skeletal manifestations.

Clinical genetics - 1 Feb 2021

Tremblay-Laganière Camille, Kaiyrzhanov Rauan, Maroofian Reza, Nguyen Thi Tuyet Mai, Salayev Kamran, Chilton Ilana T, Chung Wendy K, Madden Jill A, Phornphutkul Chanika, Agrawal Pankaj B, Houlden Henry, Campeau Philippe M

Abstract excerpt

Phosphatidylinositol Glycan Anchor Biosynthesis class H (PIGH) is an essential player in the glycosylphosphatidylinositol (GPI) synthesis, an anchor for numerous cell membrane-bound proteins. PIGH deficiency is a newly described and rare disorder associated with developmental delay, seizures and behavioral difficulties. Herein, we report three new unrelated families with two different bi-allelic PIGH variants,...

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Identifiers

PMID: 33156547
DOI: 10.1111/cge.13877
PMCID: PMC7839508

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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