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

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

Research output: Contribution to journalArticlepeer-review

Abstract

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 Israeli-Arab origin with MCAHS1. The mutated PIGN caused a significant decrease of the overall GPI-anchored proteins and CD24 expression. Our results, strongly support previously published data, that partial depletion of GPI-anchored proteins is sufficient to cause severe phenotypic expression.

Original languageEnglish (US)
Pages (from-to)176-182
Number of pages7
JournalAmerican Journal of Medical Genetics, Part A
Volume170
Issue number1
DOIs
StatePublished - Jan 1 2016

Keywords

  • Exome sequencing
  • Glycosylphoshatidylinositol (GPI)
  • MCAHS1
  • PIGN

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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