Key result
Novel compound heterozygous GNB5 variants underlie neurodevelopmental disorder with cardiac arrhythmia.
Why the study?
Identification of novel GNB5 variants causing intellectual developmental disorder with cardiac arrhythmia syndrome expands understanding of this rare condition.
Identifies novel compound heterozygous GNB5 variants as causative for intellectual developmental disorder with cardiac arrhythmia syndrome, expanding the known genetic basis of this condition.
Identification of a novel compound heterozygous of GNB5 in a patient with intellectual developmental disorder with cardiac arrhytmia (IDDCA), from non-consaguineous family. Three-dimensional modelling and in silico predictions suggest that GNB5 variants are causative of the phenotype, extending the number of IDDCA patients so far identified.
No takes yet. Share an insight, caveat, or question.
Vernon et al. (2018) studied this question. Novel compound heterozygous GNB5 variants were identified as causative for intellectual developmental disorder with cardiac arrhythmia in a child from a non-consanguineous family.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: