Expanding the phenotype of Timothy syndrome type 2: an adolescent with ventricular fibrillation but normal development
[PUBLICATION] Am J Med Genet A. 2015 Mar;167A(3):629-34. doi: 10.1002/ajmg.a.36924.
Sequencing of channelopathy genes with the BpG Arrhythmia Panel revealed a de novo mutation in the CACNA1C gene in an adolescent with ventricular fibrillation but normal development, consequently not only expanding the phenotype of Timothy Syndrome Type 2 but also demonstrating the power of large gene panels. The standard has been to select specific gene tests for patients with established clinical diagnoses, however the sometimes even surprising overlap between genotypes and phenotypes supports the use of comprehensive gene panels. This first published case report illustrates beautifully how our unique targeted sequencing method (OS-Seq) was applied successfully in establishing the genetic diagnosis in a patient where simply clinical examination and traditional genotype-phenotype approach would have failed to determine the underlying disease mechanism.