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

Roberta Salinas-Marín; Yoshiko Murakami; Carlos Alberto González-Domínguez; Mario Ernesto Cruz-Muñoz; Héctor Manuel Mora-Montes; Eva Morava; Taroh Kinoshita; Susana Monroy-Santoyo; Iván Martínez-Duncker

doi:10.3389/fgene.2022.971473

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

Roberta Salinas-Marín, Yoshiko Murakami, Carlos Alberto González-Domínguez, Mario Ernesto Cruz-Muñoz, Héctor Manuel Mora-Montes, Eva Morava, Taroh Kinoshita, Susana Monroy-Santoyo, Iván Martínez-Duncker

Medical Genetics

Research output: Contribution to journal › Article › peer-review

Abstract

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.

Original language	English (US)
Article number	971473
Journal	Frontiers in Genetics
Volume	13
DOIs	https://doi.org/10.3389/fgene.2022.971473
State	Published - Oct 17 2022

Keywords

CD59 antigen
CDG (congenital disorder of glycosylation)
GPI (glycosylphosphatidylinositol)
PIGA
exome

ASJC Scopus subject areas

Molecular Medicine
Genetics
Genetics(clinical)

Access to Document

10.3389/fgene.2022.971473

Cite this

Salinas-Marín, R., Murakami, Y., González-Domínguez, C. A., Cruz-Muñoz, M. E., Mora-Montes, H. M., Morava, E., Kinoshita, T., Monroy-Santoyo, S., & Martínez-Duncker, I. (2022). Case report: Functional characterization of a de novo c.145G>A p.Val49Met pathogenic variant in a case of PIGA-CDG with megacolon. Frontiers in Genetics, 13, Article 971473. https://doi.org/10.3389/fgene.2022.971473

Salinas-Marín, R, Murakami, Y, González-Domínguez, CA, Cruz-Muñoz, ME, Mora-Montes, HM, Morava, E, Kinoshita, T, Monroy-Santoyo, S & Martínez-Duncker, I 2022, 'Case report: Functional characterization of a de novo c.145G>A p.Val49Met pathogenic variant in a case of PIGA-CDG with megacolon', Frontiers in Genetics, vol. 13, 971473. https://doi.org/10.3389/fgene.2022.971473

@article{2751bfce35b747bfb19fc8e72879b430,

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

abstract = "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.",

keywords = "CD59 antigen, CDG (congenital disorder of glycosylation), GPI (glycosylphosphatidylinositol), PIGA, exome",

author = "Roberta Salinas-Mar{\'i}n and Yoshiko Murakami and Gonz{\'a}lez-Dom{\'i}nguez, {Carlos Alberto} and Cruz-Mu{\~n}oz, {Mario Ernesto} and Mora-Montes, {H{\'e}ctor Manuel} and Eva Morava and Taroh Kinoshita and Susana Monroy-Santoyo and Iv{\'a}n Mart{\'i}nez-Duncker",

note = "Publisher Copyright: Copyright {\textcopyright} 2022 Salinas-Mar{\'i}n, Murakami, Gonz{\'a}lez-Dom{\'i}nguez, Cruz-Mu{\~n}oz, Mora-Montes, Morava, Kinoshita, Monroy-Santoyo and Mart{\'i}nez-Duncker.",

year = "2022",

month = oct,

day = "17",

doi = "10.3389/fgene.2022.971473",

language = "English (US)",

volume = "13",

journal = "Frontiers in Genetics",

issn = "1664-8021",

publisher = "Frontiers Media S. A.",

}

TY - JOUR

T1 - Case report

T2 - Functional characterization of a de novo c.145G>A p.Val49Met pathogenic variant in a case of PIGA-CDG with megacolon

AU - Salinas-Marín, Roberta

AU - Murakami, Yoshiko

AU - González-Domínguez, Carlos Alberto

AU - Cruz-Muñoz, Mario Ernesto

AU - Mora-Montes, Héctor Manuel

AU - Morava, Eva

AU - Kinoshita, Taroh

AU - Monroy-Santoyo, Susana

AU - Martínez-Duncker, Iván

PY - 2022/10/17

Y1 - 2022/10/17

N2 - 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.

AB - 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.

KW - CD59 antigen

KW - CDG (congenital disorder of glycosylation)

KW - GPI (glycosylphosphatidylinositol)

KW - PIGA

KW - exome

UR - http://www.scopus.com/inward/record.url?scp=85141061925&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85141061925&partnerID=8YFLogxK

U2 - 10.3389/fgene.2022.971473

DO - 10.3389/fgene.2022.971473

M3 - Article

AN - SCOPUS:85141061925

SN - 1664-8021

VL - 13

JO - Frontiers in Genetics

JF - Frontiers in Genetics

M1 - 971473

ER -

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

Abstract

Keywords

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this