Closed
Targeted gene/syndrome under study
MAP4K4 (OMIM: *604666))
Abstract
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, cyril.mignot@aphp.fr
Dr Nathalie Couque, nathalie.couque@aphp.fr
Institution
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)