Recurrent MVD mutation in European patients with disseminated porokeratosis

Affiliations

¹ Department of Dermatology, Medical Center, University of Freiburg, Faculty of Medicine, Freiburg, Germany.
² Department of Dermatology and Venereology, Alexandrovska University Hospital, Sofia, Bulgaria.
³ Department of Human Genetics, Medical Center, University of Freiburg, Faculty of Medicine, Freiburg, Germany.

M Saleva-Stateva et al. Br J Dermatol. 2021 Feb.

. 2021 Feb;184(2):347-348.

doi: 10.1111/bjd.19467. Epub 2020 Sep 16.

¹ Department of Dermatology, Medical Center, University of Freiburg, Faculty of Medicine, Freiburg, Germany.
² Department of Dermatology and Venereology, Alexandrovska University Hospital, Sofia, Bulgaria.
³ Department of Human Genetics, Medical Center, University of Freiburg, Faculty of Medicine, Freiburg, Germany.

No abstract available

References

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1. Wang J, Liu Y, Liu F et al. Loss-of-function mutation in PMVK causes autosomal dominant disseminated superficial porokeratosis. Sci Rep 2016; 6:24226.
1. Li M, Li Z, Wang J et al. Mutations in the mevalonate pathway genes in Chinese patients with porokeratosis. J Eur Acad Dermatol Venereol 2016; 30:1512-17.
1. Atzmony L, Khan HM, Lim YH et al. Second-hit, postzygotic PMVK and MVD mutations in linear porokeratosis. JAMA Dermatol 2019; 155:548-55.
1. Kubo A, Sasaki T, Suzuki H et al. Clonal expansion of second-hit cells with somatic recombinations or C>T transitions form porokeratosis in MVD or MVK mutant heterozygotes. J Invest Dermatol 2019; 139:2458-66.