Gene/phenotype/disorder under study
NAA15 (OMIM *608000); Intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities (OMIM #617787)
Abstract
We are currently seeking additional adult patients carrying NAA15 variants that are classified as pathogenic or likely pathogenic, particularly truncating variants.While NAA15-related neurodevelopmental disorders are increasingly recognized in pediatric populations, there is limited information available about the adult phenotype. We are particularly interested in expanding our understanding of the clinical spectrum in adulthood, including neurocognitive outcomes, comorbidities, and long-term management.If you are aware of any adult patients with confirmed pathogenic or likely pathogenic variants in NAA15, we would be very grateful if you could get in touch. Our aim is to collaborate on phenotype expansion, natural history data collection, and potentially future joint publications. Please feel free to contact us directly for more details or to share relevant cases.
Coordinating clinicians
Assoc. Prof. Dr. Mert Karakaya – mert.karakaya@med.uni-duesseldorf.de
Prof. Dr. Dagmar Wieczorek
Institution
Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine-University Düsseldorf, Düsseldorf, 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: No