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

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 re...

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Bibliographic Details
Published in:American journal of medical genetics. Part A 2016-01, Vol.170A (1), p.176-182
Main Authors: Khayat, Morad, Tilghman, Joseph Mark, Chervinsky, Ilana, Zalman, Lucia, Chakravarti, Aravinda, Shalev, Stavit A.
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - genetics
Arabs - genetics
Base Sequence
CD24 Antigen - biosynthesis
Child
Developmental Disabilities - genetics
Exome - genetics
Exome sequencing
Female
glycosylphoshatidylinositol (GPI)
Glycosylphosphatidylinositols - biosynthesis
Glycosylphosphatidylinositols - deficiency
Glycosylphosphatidylinositols - genetics
Humans
Israel
MCAHS1
Muscle Hypotonia - genetics
Mutation - genetics
Pedigree
Phosphotransferases - genetics
PIGN
Seizures - genetics
Sequence Analysis, DNA
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Summary: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. © 2015 Wiley Periodicals, Inc.
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.37375