Targeted gene/syndrome under study

MAP4K4 (OMIM: *604666))


Variants in the MAP4K4 (OMIM*604666) gene have recently been associated with a Nooonan-like phenotype (PMID: 37126546). However, two french patients present a phenotype with periventricular nodular cortical heterotopia and a de novo missense variant in the MAP4K4 gene. This latter phenotype seems to be different from the one currently retained for this Nooonan-like gene. In vitro functional studies are being considered to explain these phenotypic differences. We are looking for other patients for collaboration.

Coordinating clinicians/researchers

Dr Cyril Mignot,

Dr Nathalie Couque,


Service Génétique médicale, CHU Pitié Salpêtrière, Paris , FRANCE

Service Génétique Moléculaire, CHU Robert Debré, Paris, FRANCE

Specific requirements beyond clinical data and genotype data sharing:

  • Re-analysis of DNA samples: N
  • Resampling of patients: N
  • Linked to a translational/basic research project: N (Functional studies to discuss)