Targeted gene under study

OMIM #610609


Biallelic variants in GINS2 have recently been associated with a recessive Meier Gorlin syndrome with craniostenosis. However, si far, only one patient has been published. We have identified a new patient with a similar phenotype related to a homozygous GINS2 variant. The aim of this study is to identify new patients with biallelic variants in GINS2 and further delineate the phenotypic and genetic spectrum of GINS2 related Meier-Gorlin syndome.

Coordinating clinicians/researchers

Dr Pauline Marzin –


Service de médecine génomique des maladies rares, Hôpital Necker-enfants maladies, Paris, 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