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Article

Early frameshift mutation in PIGA identified in a large XLID family without neonatal lethality.

Human mutation - 1 Mar 2014

Belet Stefanie, Fieremans Nathalie, Yuan Xuan, Van Esch Hilde, Verbeeck Jelle, Ye Zhaohui, Cheng Linzhao, Brodsky Brett R, Hu Hao, Kalscheuer Vera M, Brodsky Robert A, Froyen Guy

Abstract excerpt

The phosphatidylinositol glycan class A (PIGA) protein is a member of the glycosylphosphatidylinositol anchor pathway. Germline mutations in PIGA located at Xp22.2 are thought to be lethal in males. However, a nonsense mutation in the last coding exon was recently described in two brothers with multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2) who survived through birth likely because of the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 24357517
DOI: 10.1002/humu.22498

Genes

PIGA

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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