Case report: Functional characterization of a de novo c.145G>A p.Val49Met pathogenic variant in a case of PIGA-CDG with megacolon

A subgroup of congenital disorders of glycosylation (CDGs) includes inherited GPI-anchor deficiencies (IGDs) that affect the biosynthesis of glycosylphosphatidylinositol (GPI) anchors, including the first reaction catalyzed by the X-linked PIGA. Here, we show the first PIGA-CDG case reported in Mexi...

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Autores principales: Salinas-Marín, Roberta, Murakami, Yoshiko, González-Domínguez, Carlos Alberto, Cruz-Muñoz, Mario Ernesto, Mora-Montes, Héctor Manuel, Morava, Eva, Kinoshita, Taroh, Monroy-Santoyo, Susana, Martínez-Duncker, Iván
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9619068/
https://www.ncbi.nlm.nih.gov/pubmed/36324500
http://dx.doi.org/10.3389/fgene.2022.971473
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author Salinas-Marín, Roberta
Murakami, Yoshiko
González-Domínguez, Carlos Alberto
Cruz-Muñoz, Mario Ernesto
Mora-Montes, Héctor Manuel
Morava, Eva
Kinoshita, Taroh
Monroy-Santoyo, Susana
Martínez-Duncker, Iván
author_facet Salinas-Marín, Roberta
Murakami, Yoshiko
González-Domínguez, Carlos Alberto
Cruz-Muñoz, Mario Ernesto
Mora-Montes, Héctor Manuel
Morava, Eva
Kinoshita, Taroh
Monroy-Santoyo, Susana
Martínez-Duncker, Iván
author_sort Salinas-Marín, Roberta
collection PubMed
description A subgroup of congenital disorders of glycosylation (CDGs) includes inherited GPI-anchor deficiencies (IGDs) that affect the biosynthesis of glycosylphosphatidylinositol (GPI) anchors, including the first reaction catalyzed by the X-linked PIGA. Here, we show the first PIGA-CDG case reported in Mexico in a male child with a moderate-to-severe phenotype characterized by neurological and gastrointestinal symptoms, including megacolon. Exome sequencing identified the hemizygous variant PIGA c.145G>A (p.Val49Met), confirmed by Sanger sequencing and characterized as de novo. The pathogenicity of this variant was characterized by flow cytometry and complementation assays in PIGA knockout (KO) cells.
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spelling pubmed-96190682022-11-01 Case report: Functional characterization of a de novo c.145G>A p.Val49Met pathogenic variant in a case of PIGA-CDG with megacolon Salinas-Marín, Roberta Murakami, Yoshiko González-Domínguez, Carlos Alberto Cruz-Muñoz, Mario Ernesto Mora-Montes, Héctor Manuel Morava, Eva Kinoshita, Taroh Monroy-Santoyo, Susana Martínez-Duncker, Iván Front Genet Genetics A subgroup of congenital disorders of glycosylation (CDGs) includes inherited GPI-anchor deficiencies (IGDs) that affect the biosynthesis of glycosylphosphatidylinositol (GPI) anchors, including the first reaction catalyzed by the X-linked PIGA. Here, we show the first PIGA-CDG case reported in Mexico in a male child with a moderate-to-severe phenotype characterized by neurological and gastrointestinal symptoms, including megacolon. Exome sequencing identified the hemizygous variant PIGA c.145G>A (p.Val49Met), confirmed by Sanger sequencing and characterized as de novo. The pathogenicity of this variant was characterized by flow cytometry and complementation assays in PIGA knockout (KO) cells. Frontiers Media S.A. 2022-10-17 /pmc/articles/PMC9619068/ /pubmed/36324500 http://dx.doi.org/10.3389/fgene.2022.971473 Text en Copyright © 2022 Salinas-Marín, Murakami, González-Domínguez, Cruz-Muñoz, Mora-Montes, Morava, Kinoshita, Monroy-Santoyo and Martínez-Duncker. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Genetics
Salinas-Marín, Roberta
Murakami, Yoshiko
González-Domínguez, Carlos Alberto
Cruz-Muñoz, Mario Ernesto
Mora-Montes, Héctor Manuel
Morava, Eva
Kinoshita, Taroh
Monroy-Santoyo, Susana
Martínez-Duncker, Iván
Case report: Functional characterization of a de novo c.145G>A p.Val49Met pathogenic variant in a case of PIGA-CDG with megacolon
title Case report: Functional characterization of a de novo c.145G>A p.Val49Met pathogenic variant in a case of PIGA-CDG with megacolon
title_full Case report: Functional characterization of a de novo c.145G>A p.Val49Met pathogenic variant in a case of PIGA-CDG with megacolon
title_fullStr Case report: Functional characterization of a de novo c.145G>A p.Val49Met pathogenic variant in a case of PIGA-CDG with megacolon
title_full_unstemmed Case report: Functional characterization of a de novo c.145G>A p.Val49Met pathogenic variant in a case of PIGA-CDG with megacolon
title_short Case report: Functional characterization of a de novo c.145G>A p.Val49Met pathogenic variant in a case of PIGA-CDG with megacolon
title_sort case report: functional characterization of a de novo c.145g>a p.val49met pathogenic variant in a case of piga-cdg with megacolon
topic Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9619068/
https://www.ncbi.nlm.nih.gov/pubmed/36324500
http://dx.doi.org/10.3389/fgene.2022.971473
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