Targeted syndrome under study:
Ventricular tachycardia, catecholaminergic polymorphic, 1 (OMIM# 604772)
RYR2 (OMIM* 180902)
Intellectual disability (HP:0001249)
Neurodevelopmental delay (HP:0012758)
Seizure (HP:0001250)
Abstract
RYR2-related catecholaminergic polymorphic ventricular tachycardia (CPVT) is a potentially lethal inherited arrhythmia disorder that generally occurs in the absence of cardiac structural abnormalities.
Previous studies have suggested the association of RYR2-CPVT and neurodevelopmental disorders (NDDs), in particular neurodevelopmental delay, intellectual disability, and epilepsy.
We collected five additional patients presenting with RYR2-CPVT and NDDs.
Through this call, we are looking to additional patients presenting with RYR2-CPVT and NDDs (and no other disease-causing variant in genes known to cause NDDs), in order to define the clinical phenotype and genotypic spectrum of this rare association.
Coordinating clinician
Luisa Marsili – luisa.marsili@chu-lille.fr
Institution
Clinical Genetics Department, Lille University Hospital
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