Targeted gene/disorder under study:
SCN3B OMIM #608214
Developmental Delay & Intellectual Disability
Motor Delay
Autism
Abstract
During a genotype-first analysis of the voltage-gated sodium ion channels we found a homozygous likely pathogenic splice variant in two sisters with developmental and motor delay, that was inherited biparentally. Functional testing of the variant has shown that it directly impacts Nav1.1 and Nav1.2 activity.
Nav1.1 and Nav1.2 dysregulation (SCN1A & SCN2A) are associated with neurodevelopmental and motor delay (OMIM # 182389, OMIM #182390)
We are looking for more cases of biallelic SCN3B variants with a developmental delay phenotype to expand on this finding.
Coordinating clinician
Nathan Routledge – nathan.routledge.22@ucl.ac.uk
Institution
Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London, United Kingdom
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: Yes