PIGO deficiency: palmoplantar keratoderma and novel mutations

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Title: PIGO deficiency: palmoplantar keratoderma and novel mutations
Author(s): Morren, M-A
Jaeken, J
Visser, G
Salles, I
Van Geet, C
Simeoni, I
Turro, E
Freson, K
Item Type: Journal Article
Abstract: Background Several genetic defects have been identified in the glycosylphosphatidylinositol (GPI) anchor synthesis, including mutations in PIGO encoding phosphatidylinositol glycan anchor biosynthesis class O protein. These defects constitute a subgroup of the congenital disorders of glycosylation (CDG). Seven patients from five families have been reported carrying variants in PIGO that cause an autosomal recessive syndrome characterised by dysmorphism, psychomotor disability, epilepsy and hyperphosphatasemia. Methods Whole exome sequencing was performed in a boy with dysmorphism, psychomotor disability, epilepsy, palmoplantar keratoderma, hyperphosphatasemia and platelet dysfunction without a clinical bleeding phenotype. Results Two novel variants in PIGO were detected. The missense variant encoding p. His871Pro was inherited from the boy’s father while the frameshift variant encoding p. Arg604ProfsTer40 was maternally inherited. Conclusion A boy with two novel PIGO variants is reported. The skin phenotype and platelet dysfunction in this patient have not been described in previously reported patients with PIGO deficiency but it is of course uncertain whether these are caused by this disorder. The literature on PIGO deficiency is reviewed.
Publication Date: 25-May-2017
Date of Acceptance: 15-May-2017
URI: http://hdl.handle.net/10044/1/49282
DOI: https://dx.doi.org/10.1186/s13023-017-0654-9
ISSN: 1750-1172
Publisher: BioMed Central
Journal / Book Title: Orphanet Journal of Rare Diseases
Volume: 12
Copyright Statement: © The Author(s). 2017. Open Access. This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
Sponsor/Funder: British Heart Foundation
Funder's Grant Number: PG/14/90/31219
Keywords: Science & Technology
Life Sciences & Biomedicine
Genetics & Heredity
Medicine, Research & Experimental
Research & Experimental Medicine
CDG
Congenital disorder(s) of glycosylation
Glycosylphosphatidylinositol
GPI
Hyperkeratosis
Hyperphosphatasemia
PIGO-CDG
Platelet dysfunction
GPI-ANCHOR
GLYCOSYLPHOSPHATIDYLINOSITOL
DISORDERS
DEFECT
THROMBOCYTOPENIA
GLYCOSYLATION
EPILEPSY
GENE
MICE
CDG
Congenital disorder(s) of glycosylation
GPI
Glycosylphosphatidylinositol
Hyperkeratosis
Hyperphosphatasemia
PIGO-CDG
Platelet dysfunction
NIHR BioResource
Science & Technology
Life Sciences & Biomedicine
Genetics & Heredity
Medicine, Research & Experimental
Research & Experimental Medicine
CDG
Congenital disorder(s) of glycosylation
Glycosylphosphatidylinositol
GPI
Hyperkeratosis
Hyperphosphatasemia
PIGO-CDG
Platelet dysfunction
GPI-ANCHOR
GLYCOSYLPHOSPHATIDYLINOSITOL
DISORDERS
DEFECT
THROMBOCYTOPENIA
GLYCOSYLATION
EPILEPSY
GENE
MICE
1199 Other Medical And Health Sciences
Genetics & Heredity
Publication Status: Published
Article Number: ARTN 101
Appears in Collections:Department of Medicine
Faculty of Medicine
Epidemiology, Public Health and Primary Care



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