Research on the GPI anchor    

Take a look at the content of the following websites:


For patients with intellectual disability, epilepsies, and/or hyperphosphatasia (elevated alkaline phosphatase activity in the serum) and/or characteristic facial features a GPI-anchor deficiency should be suspected. For such cases we offer the molecular diagnostics of all known genes of the GPI-anchor synthesis on a research basis (GPI-gene panel diagnostics). For this analysis, we need DNA (>3µg) or EDTA blood (>2ml).


Molecular Genetics: All congenital GPI-anchor deficiencies represent rare disorders. About one in 10,000 newborns is affected by a GPI-anchor deficiency. Cases have been reported from all over the world and it seems to be a disorder that occurs in all ethnicities. GPI-anchor deficiencies are a recessive disorder, which means parents of affected individuals are unaffected and only carry the genetic defect.

Research and current issues

We are using a neuronal network for automated facial image analysis to predict the disease-causing gene. Therefore, we are looking for patients with mutations in the GPI anchor genes who might be willing to share facial photos. We also want to include familial pictures (parents and healthy siblings) in the analysis to boost the prediction.

Identification of pathogenic sequence variants: Up to date disease causing mutations have been identified in many genes of the GPI-anchor synthesis pathway. However, currently in about half of the suspected cases of GPI-anchor deficiencies no causal mutation is detected. We apply next-generation sequencing methods and statistical analysis tools to identify further, yet unknown genes that play a role in the GPI-anchor synthesis pathway...

Avatar Knaus

Alexej Knaus


Venusberg-Campus 1, House 11, 2nd floor

53127 Bonn

Wird geladen