Targeted gene under study

PPP1R12A (OMIM 602021)


PPP1R12A gene variations have first been linked to brain and urogenital disorders. We have identified several patients including sporadic and familial reports who exhibit a heterozygous loss-of-function variant in PPP1R12A, displaying a phenotype matching those of previously reported cases. In collaboration with the Medical Genetics teams from Clermont-Ferrand, Marseille, and Rouen, we started a study with the objective to gather clinical, imaging, and genetic data from additional patients. The aim of this study is to have a better description of the associated phenotype

Coordinating clinicians/researchers

Dr Aurélien JUVEN – ajuven@chu-clermontferrand.f
Dr Alice GOLDENBERG – CHU Rouen 


Department of Medical Genetics, CHU Clermont-Ferrand, France

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: No