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Expanding the phenotype of PIGP deficiency to multiple congenital anomalies-hypotonia-seizures syndrome.

Clinical genetics - 1 Aug 2023

Martín-Grau Carla, Orellana Alonso Carmen, Roselló Piera Mónica, Pedrola Vidal Laia, Llorens-Salvador Roberto, Quiroga Ramiro, Marín Reina Purificación, Rubio Moll Juan Salvador, Gómez Portero Rosa, Martínez-Castellano Francisco

Abstract excerpt

Glycosylphosphatidylinositol-anchored proteins are involved in multiple physiological processes and the initial stage of their biosynthesis is mediated by PIGA, PIGC, PIGH, PIGP, PIGQ, PIGY, and DMP2 genes, which have been linked to a wide spectrum of phenotypes depending on the gene damaged. To date, the PIGP gene has only been related to Developmental and Epileptic Encephalopathy 55 (MIM#617599) in just seven...

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PMID: 37125481
DOI: 10.1111/cge.14340

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