Literature DB >> 26364997

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

Morad Khayat1, Joseph Mark Tilghman2, Ilana Chervinsky1, Lucia Zalman3, Aravinda Chakravarti2, Stavit A Shalev1,4.   

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.
© 2015 Wiley Periodicals, Inc.

Entities:  

Keywords:  Exome sequencing; MCAHS1; PIGN; glycosylphoshatidylinositol (GPI)

Mesh：

Substances：

Year:  2015        PMID： 26364997      PMCID： PMC5635853          DOI： 10.1002/ajmg.a.37375

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


  16 in total

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10.  PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndrome.

Authors:  Peter M Krawitz; Yoshiko Murakami; Angelika Rieß; Marja Hietala; Ulrike Krüger; Na Zhu; Taroh Kinoshita; Stefan Mundlos; Jochen Hecht; Peter N Robinson; Denise Horn
Journal:  Am J Hum Genet       Date:  2013-04-04       Impact factor: 11.025
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Journal:  Am J Hum Genet       Date:  2018-09-27       Impact factor: 11.025

2.  PIGN mutation multiple congenital anomalies-hypotonia-seizures syndrome 1: A case report.

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Journal:  World J Clin Cases       Date:  2022-06-06       Impact factor: 1.534

3.  Recessive loss of function PIGN alleles, including an intragenic deletion with founder effect in La Réunion Island, in patients with Fryns syndrome.

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4.  A homozygous PIGN missense mutation in Soft-Coated Wheaten Terriers with a canine paroxysmal dyskinesia.

Authors:  Ana L Kolicheski; Gary S Johnson; Tendai Mhlanga-Mutangadura; Jeremy F Taylor; Robert D Schnabel; Taroh Kinoshita; Yoshiko Murakami; Dennis P O'Brien
Journal:  Neurogenetics       Date:  2016-11-28       Impact factor: 2.660

5.  Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis.

Authors:  Alexej Knaus; Jean Tori Pantel; Manuela Pendziwiat; Nurulhuda Hajjir; Max Zhao; Tzung-Chien Hsieh; Max Schubach; Yaron Gurovich; Nicole Fleischer; Marten Jäger; Sebastian Köhler; Hiltrud Muhle; Christian Korff; Rikke S Møller; Allan Bayat; Patrick Calvas; Nicolas Chassaing; Hannah Warren; Steven Skinner; Raymond Louie; Christina Evers; Marc Bohn; Hans-Jürgen Christen; Myrthe van den Born; Ewa Obersztyn; Agnieszka Charzewska; Milda Endziniene; Fanny Kortüm; Natasha Brown; Peter N Robinson; Helenius J Schelhaas; Yvonne Weber; Ingo Helbig; Stefan Mundlos; Denise Horn; Peter M Krawitz
Journal:  Genome Med       Date:  2018-01-09       Impact factor: 11.117

6.  Hypotonia and intellectual disability without dysmorphic features in a patient with PIGN-related disease.

Authors:  Isabelle Thiffault; Britton Zuccarelli; Holly Welsh; Xuan Yuan; Emily Farrow; Lee Zellmer; Neil Miller; Sarah Soden; Ahmed Abdelmoity; Robert A Brodsky; Carol Saunders
Journal:  BMC Med Genet       Date:  2017-11-02       Impact factor: 2.103

7.  A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Authors:  Junli Yang; Qiong Wang; Qingcui Zhuo; Huiling Tian; Wen Li; Fang Luo; Jinghui Zhang; Dan Bi; Jing Peng; Dong Zhou; Huawei Xin
Journal:  Mol Genet Genomic Med       Date:  2018-07-04       Impact factor: 2.183

Review 8.  The Glycosylphosphatidylinositol biosynthesis pathway in human diseases.

Authors:  Tenghui Wu; Fei Yin; Shiqi Guang; Fang He; Li Yang; Jing Peng
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Journal:  Orphanet J Rare Dis       Date:  2020-03-27       Impact factor: 4.123

10.  Case Report: Compound Heterozygous Phosphatidylinositol-Glycan Biosynthesis Class N (PIGN) Mutations in a Chinese Fetus With Hypotonia-Seizures Syndrome 1.

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Journal:  Front Genet       Date:  2020-10-27       Impact factor: 4.599
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