Gene/phenotype/disorder under study
FBXW7
Abstract
Dear colleagues and friends,
FBXW7 (F-box and WD repeat domain-containing 7) is a tumor suppressor gene that was identified as being involved in a syndromic intellectual developmental disorder in 2022. To date, approximately 40 patients have been reported in the literature, four of whom developed Wilms tumor.
In our department, we have identified heterozygous variants in the FBXW7 gene in several patients presenting with intellectual developmental disorder and macrocephaly due to cerebral overgrowth. Some of these patients have also developed nephroblastoma.
We aim to gather a cohort of children and adults with FBXW7 variants to better characterize the associated neurodevelopmental disorder and refine the cancer risk in this rare condition.
We would be delighted to collaborate with you on this project.
Coordinating clinicians
Anna Gerasimenko – anna.gerasimenko@aphp.fr
Cyril Mignot – cyril.mignot@aphp.fr
Institution
APHP-Sorbonne Université, Département de Génétique, Hôpital Trousseau et Groupe Hospitalier Pitié-Salpêtrière, Paris, France
Specific requirements beyond clinical data and genotype data sharing:
1- Re-analysis of DNA samples: No
2- Resampling of patients: No
3- Linked to a translational/basic research project: No