Research on the GPI anchor    

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.

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.