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

doi:10.1002/ajmg.a.37375

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

School of Medicine

Research output: Contribution to journal › Article › peer-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 language	English (US)
Pages (from-to)	176-182
Number of pages	7
Journal	American Journal of Medical Genetics, Part A
Volume	170
Issue number	1
DOIs	https://doi.org/10.1002/ajmg.a.37375
State	Published - Jan 1 2016

Keywords

Exome sequencing
Glycosylphoshatidylinositol (GPI)
MCAHS1
PIGN

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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10.1002/ajmg.a.37375

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A PIGN mutation responsible for multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1) in an Israeli-Arab family. / Khayat, Morad; Tilghman, Joseph Mark; Chervinsky, Ilana; Zalman, Lucia; Chakravarti, Aravinda; Shalev, Stavit A.

In: American Journal of Medical Genetics, Part A, Vol. 170, No. 1, 01.01.2016, p. 176-182.

Research output: Contribution to journal › Article › peer-review

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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.",

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