PIGO‐CDG: A case study with a new genotype, expansion of the phenotype, literature review, and nosological considerations

Abstract The phosphatidylinositol glycan anchor biosynthesis class O protein (PIGO) enzyme is an important step in the biosynthesis of glycosylphosphatidylinositol (GPI), which is essential for the membrane anchoring of several proteins. Bi‐allelic pathogenic variants in PIGO lead to a congenital di...

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Bibliographic Details

Published in:	JIMD Reports
Main Authors:	Rodrigo Tzovenos Starosta, Nino Kerashvili, Cassandra Pruitt, Matthew J. Schultz, Suzanne W. Boyer, Eva Morava, Maria Laura Duque Lasio, Dorothy K. Grange
Format:	Article
Language:	English
Published:	Wiley 2023-11-01
Subjects:	congenital disorder of glycosylation diarrhea glycophosphatidylinositol hyperphosphatasia hypoglycemia Mabry syndrome
Online Access:	https://doi.org/10.1002/jmd2.12396