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

Journal article

Glycosylphophatidylinositol (GPI)-anchored proteins play important roles in many biological processes, and mutations affecting proteins involved in the synthesis of the GPI anchor are reported to cause a wide spectrum of intellectual disabilities (IDs) with characteristic additional phenotypic features. Here, we describe a total of five individuals (from three unrelated families) in whom we identified mutations in PGAP3, encoding a protein that is involved in GPI-anchor maturation. Three sibl...

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Authors: Howard, M; Murakami, Y; Pagnamenta, A; Daumer-Haas, C; Fischer, B

• Publication status: Published
• Journal: American journal of human genetics
• Volume: 94
• Issue: 2
• Pages: 278-287
• Publication date: 2014-02-01
• DOI: 10.1016/j.ajhg.2013.12.012
• EISSN: 1537-6605
• ISSN: 0002-9297
• Language: English
• Keywords: Abnormalities, Multiple; Female; Humans; European Continental Ancestry Group; Receptors, Cell Surface; Amino Acid Sequence; CHO Cells; Asian Continental Ancestry Group; Mutation, Missense; Exome; Child; Intellectual Disability; Polymorphism, Single Nucleotide; Cricetinae; Saudi Arabia; Homozygote; Consanguinity; Alkaline Phosphatase; Pedigree; Cricetulus; Child, Preschool; Phosphorus Metabolism Disorders; Phylogeny; Pakistan; United States; Molecular Sequence Data; Animals; Chromosome Mapping