| Autor: |
Salinas-Marín, Roberta, Yoshiko Murakami, Alberto González-Domínguez, Carlos, Cruz-Muñoz, Mario Ernesto, Manuel Mora-Montes, Héctor, Morava, Eva, Kinoshita, Taroh, Monroy-Santoyo, Susana, Martínez-Duncker, Iván |
| Předmět: |
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| Zdroj: |
Frontiers in Genetics; 10/17/2022, Vol. 13, p1-7, 7p |
| Abstrakt: |
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. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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