Targeted gene(s)/phenotype under study
MYCN (OMIM# 164840); Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome spectrum
We identified a de novo variant in MYCN, in a foetus with a mirror phenotype of the Feingold syndrome. To date, only one patient (post-natal) has been described, with a similar mirror phenotype (PMID: 30573562). It suggests a gain-of-function mechanism, rather than a loss-of-function as described in the Feingold syndrome.
Therefore, we are collecting, already identified variants in MYCN , localized between amino-acids 50 and 70, in patients within the megalencephaly polymicrogyrya polydactyly hydrocephalus spectrum (MPPH), and negative for another molecular cause.
We have the possibility to perform functional assay on the identified MYCN variant with the collaborators from the initial publication, whom we are working with.
Dr. Frederic Tran-Mau-Them
UF6254 Innovation en Diagnostic Genomique des Maladies Rares
Specific requirements beyond clinical data and genotype data sharing
- Re-analysis of DNA samples : Yes if necessary (by the inclusion centre)
- Resampling of patients : No
- Linked to a translational/basic research project? Yes (collaboration with a Japanese team on functional assay)