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 

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

JOURNAL=Frontiers in Genetics

VOLUME=13

YEAR=2022

URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2022.971473

DOI=10.3389/fgene.2022.971473

ISSN=1664-8021

ABSTRACT=<p>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 <italic>PIGA</italic>. 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 <italic>PIGA</italic> c.145G&gt;A (p.Val49Met), confirmed by Sanger sequencing and characterized as <italic>de novo</italic>. The pathogenicity of this variant was characterized by flow cytometry and complementation assays in PIGA knockout (KO) cells.</p>