Olmsted Syndrome Caused by a Homozygous Recessive Mutation in TRPV3

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Olmsted Syndrome Caused by a Homozygous Recessive Mutation in TRPV3 Ori Eytan, Dana Fuchs-Telem, Baruch Mevorach, Margarita Indelman, Reuven Bergman, Ofer Sarig, Ilan Goldberg, Noam Adir, Eli Sprecher Journal of Investigative Dermatology Volume 134, Issue 6, Pages 1752-1754 (June 2014) DOI: 10.1038/jid.2014.37 Copyright © 2014 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 1 Clinical features, molecular analysis, and protein modeling. (a) The patient displays diffuse, inflammatory, and symmetric plantar keratoderma as well as (b) perioral hyperkeratotic plaques. (c) Direct sequencing revealed a homozygous guanine-to-cytosine substitution at position 1562 of TRPV3 cDNA (c.1562G>C) in the proband (upper panel). The mutation is carried by both parents (middle panel) in a heterozygous state. The wild-type sequence is given for comparison (lower panel). (d) PCR–restriction fragment length polymorphism analysis confirmed co-segregation of the mutation with the disease phenotype in the family. Briefly, a 191 bp long PCR fragment was amplified from genomic DNA with forward primer 5′-GAGTCTTGGTCCTGGGGAAG-3′ and reverse primer 5′-GATAACCAAGGGGCCAGACCTACTTACAAGACAAAGTGGCTC-3′. The resulting amplicons were digested for one and a half hours with DNA endonuclease XhoI (New England Biolabs, Ipswich, MA). Mutation c.1562G>C generates a new recognition site for DNA endonuclease XhoI at position 147 of the 191 bp fragment. As a result the patient displays a 147 bp fragment product, whereas her parents show both a wild-type (191 bp) and a cleaved (147 bp) fragment. Her uncle, who does not carry the mutation, demonstrates the 191 bp fragment only. (e) We modeled the TRPV3 tetramer using SWISS-Model folding engine (Arnold et al., 2006). The G573 residue (involved in previously reported dominant mutations p.G573S and p.G573C (Lin et al., 2012) and located within the S4–S5 linker domain) is represented with red spheres and is located within the core of the protein. The W521 residue (involved in recessive mutation p.Trp521Ser and located within the S2–S3 linker domain) is represented with blue spheres and is located outside the channel opening. TRPV, vanilloid family of transient receptor potential; WT, wild type. Journal of Investigative Dermatology 2014 134, 1752-1754DOI: (10.1038/jid.2014.37) Copyright © 2014 The Society for Investigative Dermatology, Inc Terms and Conditions