Gene/phenotype/disorder of interest
DHX9 (OMIM* 620988)
Abstract
In 2023 we identified de novo missense and loss-of-function variants in the RNA helicase gene DHX9 in 14 individuals with highly variable neurodevelopmental disorders (Calame et al., Am. J. Hum. Genet., 2023). Since then, we have learned about many additional cases which help confirm the gene-disease association and further our understanding of genotype-phenotype correlations. We are currently assembling the clinical and genetic data from this second cohort and seek additional cases.
Coordinating clinician
Daniel Calame; Daniel.calame@bcm.edu
Institution
Section of Pediatric Neurology & Developmental Neurosciences, Department of Pediatrics, Texas Children’s Hospital, Baylor College of Medicine, Houston, Texas, USA
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? Y