Congenital disorder of glycosylphosphatidylinositol (GPI)-anchor biosynthesis--The phenotype of two patients with novel mutations in the PIGN and PGAP2 genes.

doi:10.1016/j.ejpn.2016.01.007

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Article

Congenital disorder of glycosylphosphatidylinositol (GPI)-anchor biosynthesis--The phenotype of two patients with novel mutations in the PIGN and PGAP2 genes.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 May 2016

Jezela-Stanek Aleksandra, Ciara Elżbieta, Piekutowska-Abramczuk Dorota, Trubicka Joanna, Jurkiewicz Elżbieta, Rokicki Dariusz, Mierzewska Hanna, Spychalska Justyna, Uhrynowska Małgorzata, Szwarc-Bronikowska Marta, Buda Piotr, Said Abdul Rahim, Jamroz Ewa, Rydzanicz Małgorzata, Płoski Rafał, Krajewska-Walasek Małgorzata, Pronicka Ewa

Abstract excerpt

BACKGROUND: Glycosylphosphatidylinositol (GPI)-anchor deficiencies are a new subclass of congenital disorders of glycosylation. About 26 genes are involved in the GPI-anchor biosynthesis and remodeling pathway, of which mutations in thirteen have been reported to date as causative of a diverse spectrum of intellectual disabilities. Since the clinical phenotype of these disorders varies and the number of described...

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Identifiers

PMID: 26879448
DOI: 10.1016/j.ejpn.2016.01.007

Genes

GPI
PGAP2
PIGN

Variants

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Congenital disorder of glycosylphosphatidylinositol (GPI)-anchor biosynthesis--The phenotype of two patients with novel mutations in the PIGN and PGAP2 genes.PMID 26879448Read ↗

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