Closed
Targeted gene under study
OMIM #610609
Abstract
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 – pauline.marzin@aphp.fr
Institution
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