Figure 1From: Exome sequencing helped the fine diagnosis of two siblings afflicted with atypical Timothy syndrome (TS2) Pedigree and validation results for the causative CACNA1C G402S mutation. (a) Pedigree of the Lebanese family. Blackened symbols indicate the affected individuals. (b) Sanger sequencing traces validating the CACNA1C c.1204G > A mutation in both affected children as well as the mosaic mutation in the father. (c) Restriction assay using enzyme DdeI, specifically cleaving PCR amplicons carrying the c.1204G > A mutation. A clear restriction pattern was found for both affected children, no restriction pattern was found for the apparently healthy mother and a mosaic restriction pattern was found for the father.Back to article page