Defining the phenotype of PGAP3-congenital disorder of glycosylation; a review of 65 cases.
Alkaline phosphatase
GPI-anchor
Glycophosphatidylinositol anchor biogenesis defects
PGAP3
Psychomotor developmental delay
Journal
Molecular genetics and metabolism
ISSN: 1096-7206
Titre abrégé: Mol Genet Metab
Pays: United States
ID NLM: 9805456
Informations de publication
Date de publication:
11 2023
11 2023
Historique:
received:
15
06
2023
revised:
22
08
2023
accepted:
22
08
2023
medline:
14
11
2023
pubmed:
31
8
2023
entrez:
30
8
2023
Statut:
ppublish
Résumé
Biallelic pathogenic variants in PGAP3 cause a rare glycosylphosphatidyl-inositol biogenesis disorder, PGAP3-CDG. This multisystem condition presents with a predominantly neurological phenotype, including developmental delay, intellectual disability, seizures, and hyperphosphatemia. Here, we summarized the phenotype of sixty-five individuals including six unreported individuals from our CDG natural history study with a confirmed PGAP3-CDG diagnosis. Common additional features found in this disorder included brain malformations, behavioral abnormalities, cleft palate, and characteristic facial features. This report aims to review the genetic and metabolic findings and characterize the disease's phenotype while highlighting the necessary clinical approach to improve the management of this rare CDG.
Identifiants
pubmed: 37647829
pii: S1096-7192(23)00318-9
doi: 10.1016/j.ymgme.2023.107688
pii:
doi:
Substances chimiques
PGAP3 protein, human
EC 3.1.1.-
Carboxylic Ester Hydrolases
EC 3.1.1.-
Receptors, Cell Surface
0
Types de publication
Review
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
107688Subventions
Organisme : NINDS NIH HHS
ID : U54 NS115198
Pays : United States
Informations de copyright
Copyright © 2023 Elsevier Inc. All rights reserved.
Déclaration de conflit d'intérêts
Declaration of Competing Interest None.