Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia.

doi:10.1016/j.ajhg.2016.02.007

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Article

Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia.

American journal of human genetics - 7 Apr 2016

Makrythanasis Periklis, Kato Mitsuhiro, Zaki Maha S, Saitsu Hirotomo, Nakamura Kazuyuki, Santoni Federico A, Miyatake Satoko, Nakashima Mitsuko, Issa Mahmoud Y, Guipponi Michel, Letourneau Audrey, Logan Clare V, Roberts Nicola, Parry David A, Johnson Colin A, Matsumoto Naomichi, Hamamy Hanan, Sheridan Eamonn, Kinoshita Taroh, Antonarakis Stylianos E, Murakami Yoshiko

Abstract excerpt

Glycosylphosphatidylinositol (GPI) is a glycolipid that anchors >150 various proteins to the cell surface. At least 27 genes are involved in biosynthesis and transport of GPI-anchored proteins (GPI-APs). To date, mutations in 13 of these genes are known to cause inherited GPI deficiencies (IGDs), and all are inherited as recessive traits. IGDs mainly manifest as intellectual disability, epilepsy, coarse facial...

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Identifiers

PMID: 26996948
DOI: 10.1016/j.ajhg.2016.02.007
PMCID: PMC4833197

Genes

GPI
PIGG

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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