This website provides information on patients with mutations in the DIS3L2 gene, including clinical data, molecular data, management and research options.
The syndrome caused by mutations in the DIS3L2 gene, Perlman syndrome, is a multisystem disorder characterized by polyhydramnios, pre and postnatal overgrowth, characteristic facial features, renal dysplasia and nephroblastomatosis and multiple congenital anomalies. There is a high neonatal mortality and survivors are at high risk of developing Wilms tumor. Perlman syndrome is inherited in an autosomal dominant manner and affected individuals have homozygous or compound heterozygous pathogenic variants in the DIS3L2 gene.
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 DIS3L2 gene.
Eamonn R Maher, MD FRCP, Department of Medical Genetics, University of Cambridge, Cambridge, firstname.lastname@example.org