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Figure 1 | BMC Medical Genetics

Figure 1

From: Exome sequencing helped the fine diagnosis of two siblings afflicted with atypical Timothy syndrome (TS2)

Figure 1

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.

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