Targeted gene(s)/phenotype under study :
- Gene: ZNF142 (OMIM 604083)
- Disorder: NEDISHM (Neuordevelopmental disorder with impaired speech and hyperkinetic movements) (OMIM 618425)
Zinc finger protein 142 (ZNF142) is involved in the development of the nervous system, but the pathogenic ZNF142 variants are extremely rare, and to date, only four families have been reported. The current knowledge suggests that a defective ZNF142 leads to an autosomal recessive disorder characterized by intellectual disability, speech impairment, seizures and movement disorder. We have identified two families with compound heterozygous ZNF142 variants leading to neurodevelopmental disturbances without movement disorder. We will be very interested in including further patients, as this will be very important to understand the clinical features related to ZNF142 variants.
We plan to submit the manuscript to Clinical Genetics by the end of January 2021.
Coordinating clinicians /researchers:
- Zeynep Tümer
Kennedy Center, Department of Clinical Genetics,
Copenhagen University Hospital, Rigshospitalet
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