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Article

A PIGN mutation responsible for multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1) in an Israeli-Arab family.

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

Khayat Morad, Tilghman Joseph Mark, Chervinsky Ilana, Zalman Lucia, Chakravarti Aravinda, Shalev Stavit A

Abstract excerpt

Mutations in the PIGN gene involved in the glycosylphoshatidylinositol (GPI) anchor biosynthesis pathway cause Multiple Congenital Anomalies-Hypotonia-Seizures syndrome 1 (MCAHS1). The syndrome manifests developmental delay, hypotonia, and epilepsy, combined with multiple congenital anomalies. We report on the identification of a homozygous novel c.755A>T (p.D252V) deleterious mutation in a patient with...

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Source

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Identifiers

PMID: 26364997
DOI: 10.1002/ajmg.a.37375
PMCID: PMC5635853

Genes

GPI
PIGN

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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