Targeted gene(s)/phenotype under study

ZBTB47/ZNF651 variants


Zinc finger domain proteins play an important role as transcription factors and have been reported with increasing frequency to be associated with a neurodevelopmental disorder, neuropsychiatric disorder, and/or neurological disease phenotype. ZBTB47 (previously known at ZNF651) encodes for a classic Cys2His2 zinc finger protein transcription factor and appears to be expressed strongly in the central nervous system. This gene has not previously been associated with human disease. We have now collected three cases in the United States of patients with de novo ZBTB47 variants affecting highly conserved amino acids that we believe are pathogenic. These three patients have a phenotype including profound global developmental delay, seizures, and abnormal movements. We would like to expand our cohort to include additional cases to better understand the pathogenicity of this gene and to further characterize this neurodevelopmental disorder phenotype.

Coordinating clinicians/researchers

Scott Ward

Lindsay Burrage

Jill Mokry


Department of Molecular and Human Genetics
Baylor College of Medicine
Houston, TX, USA

Specific requirements beyond clinical data and genotype data sharing

  • Re-analysis of DNA samples : No
  • Resampling of patients : No
  • Linked to a translational/basic research project: No