Gene/phenotype/disorder of interest
RNPS1
Abstract
RNPS1 encodes a peripheral component of the exon junction complex. We have identified a large cohort of patients with de novo and rarely inherited predicted loss-of-function and missense variants and gene deletions. Typical features include 1) mild or absent neurodevelopmental disorders; 2) facial dysmorphology; and 3) skeletal malformations involving the spine, hands, feet, etc. We are looking for additional cases. We are interested in collecting blood samples for RNA-seq and methylation studies and fibroblasts for iPSC generation; these are not required for participation.
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