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Title

Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis

Authors
Knaus, Alexej
Pantel, Jean Tori
Pendziwiat, Manuela
Hajjir, Nurulhuda
Zhao, Max
Hsieh, Tzung-Chien
Schubach, Max
Gurovich, Yaron
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Published in Genome Medicine. 2018, vol. 10, no. 3, p. 1-13
Abstract Glycosylphosphatidylinositol biosynthesis defects (GPIBDs) cause a group of phenotypically overlapping recessive syndromes with intellectual disability, for which pathogenic mutations have been described in 16 genes of the corresponding molecular pathway. An elevated serum activity of alkaline phosphatase (AP), a GPI-linked enzyme, has been used to assign GPIBDs to the phenotypic series of hyperphosphatasia with mental retardation syndrome (HPMRS) and to distinguish them from another subset of GPIBDs, termed multiple congenital anomalies hypotonia seizures syndrome (MCAHS). However, the increasing number of individuals with a GPIBD shows that hyperphosphatasia is a variable feature that is not ideal for a clinical classification.
Keywords Anchor biosynthesis defectsAutomated image analysisGPIGenePrediction
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PMID: 29310717
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KNAUS, Alexej et al. Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis. In: Genome Medicine, 2018, vol. 10, n° 3, p. 1-13. doi: 10.1186/s13073-017-0510-5 https://archive-ouverte.unige.ch/unige:124335

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Deposited on : 2019-10-14

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