Literature DB >> 22444671

Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome.

Bobby G Ng1, Karl Hackmann, Melanie A Jones, Alexey M Eroshkin, Ping He, Roy Wiliams, Shruti Bhide, Vincent Cantagrel, Joseph G Gleeson, Amy S Paller, Rhonda E Schnur, Sigrid Tinschert, Janice Zunich, Madhuri R Hegde, Hudson H Freeze.   

Abstract

CHIME syndrome is characterized by colobomas, heart defects, ichthyosiform dermatosis, mental retardation (intellectual disability), and ear anomalies, including conductive hearing loss. Whole-exome sequencing on five previously reported cases identified PIGL, the de-N-acetylase required for glycosylphosphatidylinositol (GPI) anchor formation, as a strong candidate. Furthermore, cell lines derived from these cases had significantly reduced levels of the two GPI anchor markers, CD59 and a GPI-binding toxin, aerolysin (FLAER), confirming the pathogenicity of the mutations.
Copyright © 2012 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

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Year:  2012        PMID： 22444671      PMCID： PMC3322218          DOI： 10.1016/j.ajhg.2012.02.010

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


  12 in total

1.  What syndrome is this? CHIME syndrome.

Authors:  R Sidbury; A S Paller
Journal:  Pediatr Dermatol       Date:  2001 May-Jun       Impact factor: 1.588

2.  Zunich neuroectodermal syndrome: migratory ichthyosiform dermatosis, colobomas, and other abnormalities.

Authors:  S Tinschert; I Anton-Lamprecht; H Albrecht-Nebe; H Audring
Journal:  Pediatr Dermatol       Date:  1996 Sep-Oct       Impact factor: 1.588

3.  Mammalian PIG-L and its yeast homologue Gpi12p are N-acetylglucosaminylphosphatidylinositol de-N-acetylases essential in glycosylphosphatidylinositol biosynthesis.

Authors:  R Watanabe; K Ohishi; Y Maeda; N Nakamura; T Kinoshita
Journal:  Biochem J       Date:  1999-04-01       Impact factor: 3.857

4.  Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency.

Authors:  Antonio M Almeida; Yoshiko Murakami; D Mark Layton; Peter Hillmen; Gabrielle S Sellick; Yusuke Maeda; Stephen Richards; Scott Patterson; Ioannis Kotsianidis; Luigina Mollica; Dorothy H Crawford; Alastair Baker; Michael Ferguson; Irene Roberts; Richard Houlston; Taroh Kinoshita; Anastasios Karadimitris
Journal:  Nat Med       Date:  2006-06-11       Impact factor: 53.440

5.  Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome.

Authors:  Peter M Krawitz; Michal R Schweiger; Christian Rödelsperger; Carlo Marcelis; Uwe Kölsch; Christian Meisel; Friederike Stephani; Taroh Kinoshita; Yoshiko Murakami; Sebastian Bauer; Melanie Isau; Axel Fischer; Andreas Dahl; Martin Kerick; Jochen Hecht; Sebastian Köhler; Marten Jäger; Johannes Grünhagen; Birgit Jonske de Condor; Sandra Doelken; Han G Brunner; Peter Meinecke; Eberhard Passarge; Miles D Thompson; David E Cole; Denise Horn; Tony Roscioli; Stefan Mundlos; Peter N Robinson
Journal:  Nat Genet       Date:  2010-08-29       Impact factor: 38.330

Review 6.  Dystroglycanopathies: coming into focus.

Authors:  Caroline Godfrey; A Reghan Foley; Emma Clement; Francesco Muntoni
Journal:  Curr Opin Genet Dev       Date:  2011-03-11       Impact factor: 5.578

7.  SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder.

Authors:  Vincent Cantagrel; Dirk J Lefeber; Bobby G Ng; Ziqiang Guan; Jennifer L Silhavy; Stephanie L Bielas; Ludwig Lehle; Hans Hombauer; Maciej Adamowicz; Ewa Swiezewska; Arjan P De Brouwer; Peter Blümel; Jolanta Sykut-Cegielska; Scott Houliston; Dominika Swistun; Bassam R Ali; William B Dobyns; Dusica Babovic-Vuksanovic; Hans van Bokhoven; Ron A Wevers; Christian R H Raetz; Hudson H Freeze; Eva Morava; Lihadh Al-Gazali; Joseph G Gleeson
Journal:  Cell       Date:  2010-07-15       Impact factor: 41.582

Review 8.  Neuroectodermal (CHIME) syndrome: an additional case with long term follow up of all reported cases.

Authors:  V Shashi; J Zunich; T E Kelly; J S Fryburg
Journal:  J Med Genet       Date:  1995-06       Impact factor: 6.318

9.  Epidermal-specific defect of GPI anchor in Pig-a null mice results in Harlequin ichthyosis-like features.

Authors:  Mariko Hara-Chikuma; Junji Takeda; Masahito Tarutani; Yoshikazu Uchida; Walter M Holleran; Yoko Endo; Peter M Elias; Shintaro Inoue
Journal:  J Invest Dermatol       Date:  2004-09       Impact factor: 8.551

10.  Deficiency of the GPI anchor caused by a somatic mutation of the PIG-A gene in paroxysmal nocturnal hemoglobinuria.

Authors:  J Takeda; T Miyata; K Kawagoe; Y Iida; Y Endo; T Fujita; M Takahashi; T Kitani; T Kinoshita
Journal:  Cell       Date:  1993-05-21       Impact factor: 41.582
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  60 in total

1.  Neurology of inherited glycosylation disorders.

Authors:  Hudson H Freeze; Erik A Eklund; Bobby G Ng; Marc C Patterson
Journal:  Lancet Neurol       Date:  2012-05       Impact factor: 44.182

2.  Congenital disorders of glycosylation: other causes of ichthyosis.

Authors:  Jaak Jaeken; Daisy Rymen; Gert Matthijs
Journal:  Eur J Hum Genet       Date:  2013-07-31       Impact factor: 4.246

Review 3.  The promise of whole-exome sequencing in medical genetics.

Authors:  Bahareh Rabbani; Mustafa Tekin; Nejat Mahdieh
Journal:  J Hum Genet       Date:  2013-11-07       Impact factor: 3.172

Review 4.  Congenital disorders of glycosylation.

Authors:  Irene J Chang; Miao He; Christina T Lam
Journal:  Ann Transl Med       Date:  2018-12

Review 5.  Array comparative genomic hybridization and genomic sequencing in the diagnostics of the causes of congenital anomalies.

Authors:  Krzysztof Szczałuba; Urszula Demkow
Journal:  J Appl Genet       Date:  2016-11-18       Impact factor: 3.240

6.  Generation of glycosylphosphatidylinositol anchor protein-deficient blood cells from human induced pluripotent stem cells.

Authors:  Xuan Yuan; Evan M Braunstein; Zhaohui Ye; Cyndi F Liu; Guibin Chen; Jizhong Zou; Linzhao Cheng; Robert A Brodsky
Journal:  Stem Cells Transl Med       Date:  2013-10-10       Impact factor: 6.940

Review 7.  Understanding human glycosylation disorders: biochemistry leads the charge.

Authors:  Hudson H Freeze
Journal:  J Biol Chem       Date:  2013-01-17       Impact factor: 5.157

8.  Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation.

Authors:  Malcolm F Howard; Yoshiko Murakami; Alistair T Pagnamenta; Cornelia Daumer-Haas; Björn Fischer; Jochen Hecht; David A Keays; Samantha J L Knight; Uwe Kölsch; Ulrike Krüger; Steffen Leiz; Yusuke Maeda; Daphne Mitchell; Stefan Mundlos; John A Phillips; Peter N Robinson; Usha Kini; Jenny C Taylor; Denise Horn; Taroh Kinoshita; Peter M Krawitz
Journal:  Am J Hum Genet       Date:  2014-01-16       Impact factor: 11.025

Review 9.  Skin manifestations in CDG.

Authors:  D Rymen; J Jaeken
Journal:  J Inherit Metab Dis       Date:  2014-02-20       Impact factor: 4.982

10.  A homozygous PIGO mutation associated with severe infantile epileptic encephalopathy and corpus callosum hypoplasia, but normal alkaline phosphatase levels.

Authors:  Yoav Zehavi; Anja von Renesse; Etty Daniel-Spiegel; Yonatan Sapir; Luci Zalman; Ilana Chervinsky; Markus Schuelke; Rachel Straussberg; Ronen Spiegel
Journal:  Metab Brain Dis       Date:  2017-09-13       Impact factor: 3.584
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