Search for patients harbouring a de novo heterozygous variant in SP9 gene: Call for collaboration (55)

Targeted gene(s)/phenotype under study :

  • Gene: SP9 / Neurodevelopmental disorders 

Abstract :

We identified 5 individuals from 5 unrelated families presenting with neurodevelopmental disorders (ID, ASD, epilepsy, or epileptic encephalopathy) caused by SP9 de novo heterozygous variants. Functional studies are underway for the variants identified in our patients. We aim to find other families with SP9 heterozygous variants to further delineate this genetic disease.

Coordinating clinicians /researchers: 

  • Dr Colin Estelle
  • Dr Tessarech Marine

Institution :

Angers University Hospital, France

Contact : 

Specific requirements beyond clinical data and genotype data sharing:

  • Re-analysis of DNA samples: No
  • Resampling of patients: No
  • Linked to a translational/basic research project? Yes