The syndrome caused by biallelic mutations in the ZNF526 gene (OMIM # 614387) is called Dentici-Novelli neurodevelopmental syndrome (DENNED, OMIM # 619877). It is a multisystem disorder characterized by severe prenatal and postnatal microcephaly (ranging from -4 SD to -8 SD), profound psychomotor delay, hypertonic-dystonic movements, epilepsy and simplified gyral pattern on MRI and bilateral progressive cataracts. Not all individuals with a mutation in the ZNF526 gene share all of these features. Patients with homozygous frameshift mutations have a more severe phenotype while patient with missense variant H409Q have a less severe phenotype with postnatal microcephaly (-2 SD), progressive bilateral cataracts, severe intellectual disability but with unremarkable brain MRI.

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 ZNF526 gene.

Maria Lisa Dentici, MD, Consultant clinical geneticist at Rare Disease and Medical Genetics Unit of Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy, marialisa.dentici@opbg.net