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Article

In-Depth Phenotyping of PIGW-Related Disease and Its Role in 17q12 Genomic Disorder.

Biomolecules - 18 Dec 2024

Feresin Agnese, Lefebvre Mathilde, Sjøstrøm Emilie, Zanus Caterina, Paccagnella Elisa, Bruno Irene, Valencic Erica, Morgan Anna, Tommasini Alberto, Thauvin Christel, Bayat Allan, Girotto Giorgia, Musante Luciana

Abstract excerpt

Glycosylphosphatidylinositol (GPI) biosynthesis defect 11 (GPIBD11), part of the heterogeneous group of congenital disorders of glycosylation, is caused by biallelic pathogenic variants in PIGW. This rare disorder has previously been described in only 12 patients. We report four novel patients: two sib fetuses with congenital anomalies affecting several organs, including the heart; a living girl with tetralogy of...

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Child
Child, Preschool
Chromosomes, Human, Pair 17
Congenital Disorders of Glycosylation
GPI gene

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Membrane Proteins

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Open in PubMed Open full text

Identifiers

PMID: 39766333
DOI: 10.3390/biom14121626
PMCID: PMC11727550

Genes

PIGW
GPI

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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