This website provides information on patients with mutations in the FBXO11 gene, including clinical data, molecular data, management and research options.
The syndrome caused by mutations in the FBXO11 gene is a multisystem disorder characterized by mild to severe developmental delay. Additional clinical features include behavioural problems, brain abnormalities, seizures, hypotonia, vision problems, gastro-intestinal problems, dysmorphic features, , and incidentally congenital malformations involving the heart or urogenital system and cleft lip or palate.
Not all individuals with a mutation in the FBXO11 gene have these features and there does not seem to be a distinct recognizable phenotype based on the current clinical knowledge. The protein encoded by FBXO11 is evolutionary strongly conserved and is is part of the SCF complex which is responsible for ubiquitination and subsequent degradation of proteins.
This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the FBXO11 gene.
Sandra Jansen, MD, Human Genetics Radboudumc, Clinical Genetics Amsterdam UMC, the Netherlands, firstname.lastname@example.org
Lisenka Vissers, PhD, Human Genetics Radboudumc, Nijmegen, the Netherlands, email@example.com
Bert de Vries, MD, PhD, Human Genetics Radboudumc, Nijmegen, the Netherlands, firstname.lastname@example.org