Search for patients with Pai/OAFNS syndrome

Targeted gene(s)/phenotype under study: Pai/OAFNS syndrome, ideally after negative exome

Abstract : The Solve-RD project is aiming at identifying genes in diseases resistant to exome sequencing. Pai and OAFNS are overlapping syndromes, belonging to the unsolvable cohorts in solve-RD, taking into account that exomes have remained negative in a number of patients. Multiomics are proposed to identify the molecular bases of these entities. New samples are required, including blood, urine and saliva of the proband and parents, and ideally tissue of affected area if available.

Coordinating clinician: Pr Laurence Faivre

Institution (dept, hospital, City): CHU Dijon/France

Contact email: 

Specific requirements beyond clinical data and genotype data sharing: 

  • Re-analysis of DNA samples :  N  
  • Resampling of patients No if the trio is available :
  • Linked to a translational/basic research project? Y, Solve-RD