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Article

Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation.

American journal of human genetics - 13 Jul 2012

Krawitz Peter M, Murakami Yoshiko, Hecht Jochen, Krüger Ulrike, Holder Susan E, Mortier Geert R, Delle Chiaie Barbara, De Baere Elfride, Thompson Miles D, Roscioli Tony, Kielbasa Szymon, Kinoshita Taroh, Mundlos Stefan, Robinson Peter N, Horn Denise

Abstract excerpt

Hyperphosphatasia with mental retardation syndrome (HPMRS), an autosomal-recessive form of intellectual disability characterized by facial dysmorphism, seizures, brachytelephalangy, and persistent elevated serum alkaline phosphatase (hyperphosphatasia), was recently shown to be caused by mutations in PIGV, a member of the glycosylphosphatidylinositol (GPI)-anchor-synthesis pathway. However, not all individuals...

Topics

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Alkaline Phosphatase
Child, Preschool
Infant
Intellectual Disability

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Membrane Proteins

Models, Molecular

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Identifiers

PMID: 22683086
DOI: 10.1016/j.ajhg.2012.05.004
PMCID: PMC3397269

Genes

GPI
PIGO
PIGV

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation.PMID 22683086Read ↗

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

Mutations in PIGL in a patient with Mabry syndromeSemantic proximity Read ↗

Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome.Semantic proximity Read ↗

Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome.Semantic proximity Read ↗

Functional Characterization of Two Novel Biallelic PIGV Variants in a Patient With Myoclonic Seizures and Elevated Alkaline Phosphatase: A Case Report.Semantic proximity Read ↗

Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies.Semantic proximity Read ↗

Excluding Digenic Inheritance of PGAP2 and PGAP3 Variants in Mabry Syndrome (OMIM 239300) Patient: Phenotypic Spectrum Associated with PGAP2 Gene Variants in Hyperphosphatasia with Mental Retardation Syndrome-3 (HPMRS3).Semantic proximity Read ↗

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

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

A novel PIGN mutation and prenatal diagnosis of inherited glycosylphosphatidylinositol deficiencySemantic 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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