This website provides information on patients with pathogenic variants in the Poly-U binding splicing factor gene, 60-kD gene (PUF60), including clinical data, molecular data, management and research options.
The syndrome caused by heterozygous variants in PUF60 is a multisystem disorder (previously termed ‘Verheij syndrome’) characterized by:
• Neurodevelopmental disorder
• Brain malformations
• Short stature
• Growth retardation
• Facial dysmorphia
• Congenital heart defects
• Renal abnormalities
• Vertebral abnormalities and/or progressive scoliosis
As the disorder shows a high variability, not all individuals with a variant in PUF60 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 variants in PUF60.
Hormos Dafsari, MD, Department of Pediatrics, University of Cologne, Cologne, Germany, Hormos.Dafsari@uk-koeln.de