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

Abstract:

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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Publication status:
Published

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Publisher copy:
10.1016/j.ajhg.2013.12.012

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Journal:
American journal of human genetics
Volume:
94
Issue:
2
Pages:
278-287
Publication date:
2014-02-01
DOI:
EISSN:
1537-6605
ISSN:
0002-9297
Source identifiers:
446711

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