Glycosylphosphatidylinositol Biosynthesis Defect Due To Novel Biallelic Pathogenic Variants in PIGW.

Date publication

mars 2025

Journal

Pediatric neurology

Auteurs

Membres identifiés du Cancéropôle Est :
Pr THAUVIN-ROBINET Christel

Tous les auteurs :
Rabouhi N, Salian S, Benkerroum H, Yoshida T, Uddin H, Nguyen TTM, Fujita T, Hirose S, Kosaki K, Lefebvre M, Bourgon N, Thauvin-Robinet C, Kamalova A, Shakhirova A, Gill H, Lee HK, Menke LA, Kinoshita T, Murakami Y, Campeau PM

Lien Pubmed

https://www.ncbi.nlm.nih.gov/pubmed/40239339

Résumé

Inherited glycosylphosphatidylinositol (GPI) deficiencies are a heterogeneous group of inherited disorders of glycosylation, caused by mutations in genes involved in GPI-anchored proteins (GPI-AP) biosynthesis. PIGW is a gene known to be involved in the early steps of the GPI-anchor biosynthesis, as well as functional studies for most patients. Biallelic mutations in PIGW have been previously linked to hyperphosphatasia with mental retardation syndrome 5, also known as glycosylphosphatidylinositol biosynthesis defect 11 (GPIBD11).

Mots clés

GPI-anchored proteins, Glycosylphosphatidylinositol biosynthesis defect 11 (GPIBD11), Hyperphosphatasia with mental retardation syndrome 5 (HPMRS5), Phosphatidyl inositol glycan class W (PIGW)

Référence

Pediatr Neurol. 2025 03 25;167:89-95