Expanding the phenotypic spectrum of the ZNF292- Associated neurodevelopmental disorder

Targeted gene(s)/phenotype under study : ZNF292

Abstract :

Loss-of-function variants in the zinc finger protein 292 (ZNF292) gene have recently been described to cause a neurodevelopmental disorder characterized by developmental delay, intellectual disability and a variety of syndromic features (article by Mirzaa GM et al., 2020, Genetics in Medicine). Our aim is to expand the knowledge on this disorder by describing the phenotypic spectrum of additional patients with variants in the ZNF292 gene as well as studying the inheritance mode of this syndrome.

Coordinating clinician/researcher: Miriam Bertrand

Institution :

Institute of Medical Genetics and Applied Genomics,

University of Tübingen,

72076 Tübingen, Germany

Contact :  miriam.bertrand@med.uni-tuebingen.de

Specific requirements beyond clinical data and genotype data sharing:

  • Re-analysis of DNA samples : N
  • Resampling of patients : N
  • Linked to a translational/basic research project?