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Article

Multisystem disorders, severe developmental delay and seizures in two affected siblings, expanding the phenotype of PIGC deficiency.

European journal of medical genetics - 1 Oct 2020

Pons Linda, Sabatier Isabelle, Alix Eudeline, Faoucher Marie, Labalme Audrey, Sanlaville Damien, Lesca Gaetan

Abstract excerpt

PIGC (OMIM 601730) encodes the PIGC protein, which is part of an enzyme complex involved in the biosynthesis of the glycosylphosphatidylinositol protein anchor. The other proteins in the complex include PIGA, PIGH, PIGQ, PIGY, PIGP and DPM2. Homozygous and compound heterozygous mutations in PIGC have recently been described to cause severe global developmental delay, intellectual disability, and seizures in two...

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PMID: 32707268
DOI: 10.1016/j.ejmg.2020.103994

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