Targeted gene under study:

PUF60 (OMIM * 604819, # 615583; ORPHA: 508498)


Heterozygous variants in the Poly(U) Binding Splicing Factor 60kDa gene (PUF60) have been associated to Verheij syndrome with its key features coloboma, short stature, skeletal abnormalities, neurodevelopmental delay, palatal abnormalities, and congenital heart and kidney defects. Novel phenotypic expansions included movement disorders as well as immunological findings with recurrent respiratory, urinary and ear infections, atopic diseases, and skin abnormalities. Essentially, this disease is now re-classified as PUF60-related neurodevelopmental disorders with multisystem involvement. Here, we recruit patients with monoallelic PUF60 variants and any of the above mentioned phenotypes.

Coordinating clinicians

Hormos Dafsari –


Department of Pediatrics, University Hospital Cologne, Cologne, Germany

Specific requirements beyond clinical data and genotype data sharing:

1- Re-analysis of DNA samples: No

2- Resampling of patients: No

3- Linked to a translational/basic research project: Yes