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Article

A novel mutation in PIGW causes glycosylphosphatidylinositol deficiency without hyperphosphatasia.

American journal of medical genetics. Part A - 1 Dec 2016

Hogrebe Max, Murakami Yoshiko, Wild Martin, Ahlmann Martina, Biskup Saskia, Hörtnagel Konstanze, Grüneberg Marianne, Reunert Janine, Linden Tobias, Kinoshita Taroh, Marquardt Thorsten

Abstract excerpt

In recent years, many mutations have been identified that affect the biosynthesis of the glycosylphosphatidylinositol anchor, a biomolecule that attaches surface molecules to cell membranes. Here, we present two second-degree cousins with unexplained patterns of seizures. Next-generation sequencing identified the homozygous c.460A>G; p.(R154G) PIGW mutation in both patients. Transfection of the mutated allele...

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Source

Identifiers

PMID: 27626616
DOI: 10.1002/ajmg.a.37950

Genes

PIGW

Variants

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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 novel mutation in PIGW causes glycosylphosphatidylinositol deficiency without hyperphosphatasia.PMID 27626616Read ↗

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