ZBTB47/ZNF651 variants: Call for Collaboration (48)

Targeted gene(s)/phenotype under study :

  • ZBTB47/ZNF651 variants

Abstract :

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

Collaboration:

  • Cyril Mignot : Reference Centre for Rares Diseases ( APHP, Paris Sorbonne University)

Institution :

Department of Molecular and Human Genetics

Baylor College of Medicine

Houston, TX, USA

Contact : 

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