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Article

Null mutation in PGAP1 impairing Gpi-anchor maturation in patients with intellectual disability and encephalopathy.

PLoS genetics - 1 May 2014

Murakami Yoshiko, Tawamie Hasan, Maeda Yusuke, Büttner Christian, Buchert Rebecca, Radwan Farah, Schaffer Stefanie, Sticht Heinrich, Aigner Michael, Reis André, Kinoshita Taroh, Jamra Rami Abou

Abstract excerpt

Many eukaryotic cell-surface proteins are anchored to the membrane via glycosylphosphatidylinositol (GPI). There are at least 26 genes involved in biosynthesis and remodeling of GPI anchors. Hypomorphic coding mutations in seven of these genes have been reported to cause decreased expression of GPI anchored proteins (GPI-APs) on the cell surface and to cause autosomal-recessive forms of intellectual disability...

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Source

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Identifiers

PMID: 24784135
DOI: 10.1371/journal.pgen.1004320
PMCID: PMC4006728

Genes

GPI
PGAP1

Variants

Provenance

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Related research

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Null mutation in PGAP1 impairing Gpi-anchor maturation in patients with intellectual disability and encephalopathy.PMID 24784135Read ↗

Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability.Semantic proximity Read ↗

Expanding the Genotypic and Phenotypic Spectrum of PGAP1 Deficiency: Clinical and Functional Insights from 15 PatientsSemantic proximity Read ↗

Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation.Semantic proximity Read ↗

Significantly different clinical phenotypes associated with mutations in synthesis and transamidase+remodeling glycosylphosphatidylinositol (GPI)-anchor biosynthesis genes.Semantic proximity Read ↗

Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia.Semantic proximity Read ↗

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

Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathy.Semantic proximity Read ↗

PIGO mutations in intractable epilepsy and severe developmental delay with mild elevation of alkaline phosphatase levels.Semantic proximity Read ↗

PIGQ-Related Glycophosphatidylinositol Deficiency Associated with Nonprogressive Congenital Ataxia.Semantic proximity Read ↗

Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia.Semantic proximity Read ↗

A defect in GPI synthesis as a suggested mechanism for the role of ARV1 in intellectual disability and seizures.Semantic proximity Read ↗

Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders.Semantic proximity Read ↗

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