Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy.

doi:10.1016/j.ajhg.2020.03.001

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Article

Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy.

American journal of human genetics - 2 Apr 2020

Nguyen Thi Tuyet Mai, Murakami Yoshiko, Mobilio Sabrina, Niceta Marcello, Zampino Giuseppe, Philippe Christophe, Moutton Sébastien, Zaki Maha S, James Kiely N, Musaev Damir, Mu Weiyi, Baranano Kristin, Nance Jessica R, Rosenfeld Jill A, Braverman Nancy, Ciolfi Andrea, Millan Francisca, Person Richard E, Bruel Ange-Line, Thauvin-Robinet Christel, Ververi Athina, DeVile Catherine, Male Alison, Efthymiou Stephanie, Maroofian Reza, Houlden Henry, Maqbool Shazia, Rahman Fatima, Baratang Nissan V, Rousseau Justine, St-Denis Anik, Elrick Matthew J, Anselm Irina, Rodan Lance H, Tartaglia Marco, Gleeson Joseph, Kinoshita Taroh, Campeau Philippe M

Abstract excerpt

Glycosylphosphatidylinositol (GPI)-anchored proteins are critical for embryogenesis, neurogenesis, and cell signaling. Variants in several genes participating in GPI biosynthesis and processing lead to decreased cell surface presence of GPI-anchored proteins (GPI-APs) and cause inherited GPI deficiency disorders (IGDs). In this report, we describe 12 individuals from nine unrelated families with 10 different...

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Identifiers

PMID: 32220290
DOI: 10.1016/j.ajhg.2020.03.001
PMCID: PMC7118585

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