en
Scientific article
Open access
English

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

Published inGenome Medicine, vol. 10, no. 3, p. 1-13
Publication date2018
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
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
Main files (1)
Article (Published version)
Identifiers
ISSN of the journal1756-994X
261views
130downloads

Technical informations

Creation09/30/2019 11:34:00 AM
First validation09/30/2019 11:34:00 AM
Update time03/15/2023 6:09:57 PM
Status update03/15/2023 6:09:54 PM
Last indexation02/12/2024 11:43:41 AM
All rights reserved by Archive ouverte UNIGE and the University of GenevaunigeBlack