Gene/phenotype/disorder of interest
NSRP1 (Neurodevelopmental disorder with speech delay, spasticity and brain abnormalities (NEDSSBA); OMIM # 620001)
Abstract
Neurodevelopmental disorder with speech delay, spasticity, and brain abnormalities (NEDSSBA) is an extremely rare neurodevelopmental disorder caused by pathogenic variants in NSRP1. To date, only a limited number of affected individuals have been reported, and the full clinical spectrum, natural course, and genotype-phenotype correlations are not yet fully understood. Reported features include global developmental delay, speech disorders, intellectual disability, spasticity, hypotonia, epilepsy, movement disorders, and variable structural brain abnormalities on neuroimaging. We invite patients whose genetic testing reveals variants of clinical significance of uncertain (VUS), likely pathogenic (LP) or pathogenic (P) in the NSRP1 gene, and whose phenotype is consistent with NEDSBBA, to participate in our study. Our aim is to expand the clinical, neuroradiological, and molecular spectrum of NEDSSBA, improve understanding of disease progression and long-term outcomes, evaluate genotype-phenotype correlations, and identify novel clinical signs that can facilitate diagnosis, management, and genetic counseling.
Coordinating clinicians
- Umran Pota; umranpota06@gmail.com
- S. Mete Dagdas; metedagdas@gmail.com
- Daniel Calame; calame@bcm.edu
- Pinar Gencpinar; pinargencpinar@gmail.com
Institutions
- Department of Pediatric Neurology, Izmir City Hospital, University of Health Sciences, Izmir Turkiye.
- Section of Pediatric Neurology and Developmental Neurosciences, Department of Pediatrics, Baylor College of Medicine, Texas Children’s Hospital, Houston, TX, USA.
- Department of Pediatric Neurology, Faculty of Medicine, Izmir Katip Celebi University, Izmir, Turkiye.
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? N