RDMM-Europe project published!

Solve-RD partner Laurence Faivre from CHU Dijon and colleagues from CHU Rouen, France identified 5 patients with a recurrent de novo variant p.(Arg126Gln) in FEM1B and a neurodevelopmental disorder associated with a variable set of malformations, including brain anomalies, clubfeet, skeletal abnormalities.

The RDMM-Europe Seeding Grant awarded to Ype Elgersma at Erasmus University Medical Center in Rotterdam helped to assess the pathogenicity of this rare genetic variant. The project involved expression of the mutant form in developing mouse embryos and in primary neuronal cultures and demonstrated the toxicity of FEM1BR126Q variant compared to FEM1B.

The collaborative work was now accepted for publication in Genetics in Medicine:

François Lecoquierre, […] Laurence Faivre, Ype Elgersma, Antonio Vitobello. A recurrent missense variant in the E3 ubiquitin ligase substrate recognition subunit FEM1B causes a rare syndromic neurodevelopmental disorder. Genetics in Medicine, Volume 26, Issue 6, 2024, 101119, ISSN 1098-3600, https://doi.org/10.1016/j.gim.2024.101119