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

Knaus, Alexej; Pantel, Jean Tori; Pendziwiat, Manuela; Hajjir, Nurulhuda; Zhao, Max; Hsieh, Tzung-Chien; Schubach, Max; Gurovich, Yaron; Fleischer, Nicole; Jäger, Marten; Köhler, Sebastian; Muhle, Hiltrud; Korff, Christian; Møller, Rikke S; Bayat, Allan; Calvas, Patrick; Chassaing, Nicolas; Warren, Hannah; Skinner, Steven; Louie, Raymond; Evers, Christina; Bohn, Marc; Christen, Hans-Jürgen; van den Born, Myrthe; Obersztyn, Ewa; Charzewska, Agnieszka; Endziniene, Milda; Kortüm, Fanny; Brown, Natasha; Robinson, Peter N; Schelhaas, Helenius J; Weber, Yvonne; Helbig, Ingo; Mundlos, Stefan; Horn, Denise; Krawitz, Peter M

doi:10.1186/s13073-017-0510-5

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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 Fleischer, Nicole Jäger, Marten Köhler, Sebastian Muhle, Hiltrud Korff, Christian Møller, Rikke S Bayat, Allan Calvas, Patrick Chassaing, Nicolas Warren, Hannah Skinner, Steven Louie, Raymond Evers, Christina Bohn, Marc Christen, Hans-Jürgen van den Born, Myrthe Obersztyn, Ewa Charzewska, Agnieszka Endziniene, Milda Kortüm, Fanny Brown, Natasha Robinson, Peter N Schelhaas, Helenius J Weber, Yvonne Helbig, Ingo Mundlos, Stefan Horn, Denise Krawitz, Peter M show all authors [1 - 36]
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 defects — Automated image analysis — GPI — Gene — Prediction
Identifiers		DOI: 10.1186/s13073-017-0510-5 PMID: 29310717
Full text		Article (Published version) (842 Kb) - Free access
Structures		Faculté de médecine / Section de médecine clinique / Département de pédiatrie, gynécologie et obstétrique
Citation (ISO format)		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