TY - JOUR
T1 - A PIGN mutation responsible for multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1) in an Israeli-Arab family
AU - Khayat, Morad
AU - Tilghman, Joseph Mark
AU - Chervinsky, Ilana
AU - Zalman, Lucia
AU - Chakravarti, Aravinda
AU - Shalev, Stavit A.
N1 - Publisher Copyright:
© 2015 Wiley Periodicals, Inc.
Copyright:
Copyright 2018 Elsevier B.V., All rights reserved.
PY - 2016/1/1
Y1 - 2016/1/1
N2 - 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.
AB - 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.
KW - Exome sequencing
KW - Glycosylphoshatidylinositol (GPI)
KW - MCAHS1
KW - PIGN
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U2 - 10.1002/ajmg.a.37375
DO - 10.1002/ajmg.a.37375
M3 - Article
C2 - 26364997
AN - SCOPUS:84955666376
VL - 170
SP - 176
EP - 182
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 1
ER -