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. 2019 Apr 3;155(5):548–555. doi: 10.1001/jamadermatol.2019.0016

Figure 2. Second-Hit Somatic Mosaicism for PMVK and MVD Mutations Associated With Linear Porokeratosis.

Figure 2.

Germline and somatic mutations were identified via whole-exome sequencing of DNA isolated from tissue and blood/saliva of all 3 participants. Sanger sequencing was used to confirm mutations found in exome sequencing data. A, In participant 1 there was a germline heterozygous PMVK p.R110Q mutation. This mutation was enriched in affected skin due to loss of heterozygosity. B, In participant 2 there was a germline heterozygous PMVK p.E27X mutation, as observed in blood and affected skin. C, In participant 2 there was also a somatic PMVK p.Q127X mutation in the affected skin leading to a compound heterozygous state. D, In participant 3 there was a germline heterozygous MVD c.70 + 5G>A mutation, as observed in the blood and affected skin. The same mutation was found in his mother (data not shown).