This website provides information on patients with mutations in the ZMYND11 gene, including clinical data, molecular data, management and research options.
ZMYND11 (encoding zinc-finger MYND domain 11) is a tumor suppressor gene whose corresponding protein recognizes chromatin trimethylated at lysine 36 of histone H3.3 (H3.3K36me3) and regulates elongation by RNA polymerase II. It is associated with highly expressed genes and might be an important transcriptional corepressor early in development. Additionally, ZMYND11 has been demonstrated to have an inhibitory role in neuronal differentiation.
The syndrome caused by mutations in the ZMYND11 gene is a multisystem disorder characterized by dysmorphic facial features including hypertelorism and wide mouth, the neurodevelopmental phenotype includes epilepsy, autism spectrum disorders, intellectual disability, aggression, and complex neuropsychiatric features.
Not all individuals with a mutation in the ZMYND11 gene have these features.
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 ZMYND11 gene.
Amelle Shillington, DO, Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio, USA, Amelle.firstname.lastname@example.org
Jason Tchieu, PhD, Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio, USA, Jason.email@example.com