Alireza Haghighi, Claire A. Scott, Daniel S

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A Missense Mutation in the MBTPS2 Gene Underlies the X-Linked Form of Olmsted Syndrome Alireza Haghighi, Claire A. Scott, Daniel S. Poon, Reza Yaghoobi, Nasrollah Saleh-Gohari, Vincent Plagnol, David P. Kelsell Journal of Investigative Dermatology Volume 133, Issue 2, Pages 571-573 (February 2013) DOI: 10.1038/jid.2012.289 Copyright © 2013 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 1 Clinical features of Olmsted syndrome (OS) and family pedigree. (a) Pedigree of the OS family. The MBTPS2 mutation p.F464S segregates with disease with unaffected females (I-1 and II-2) being carriers, both probands (II-1 and III-2) being hemizygous for the mutation, and the unaffected male (III-1) being wild type (WT). (b–d) Clinical features of OS in the probands II-1 (b, d) and III-2 (c). The clinical features included alopecia universalis and sharply marginated, thick, verrucous, and erythematous hyperkeratotic plaques around all of the body orifices and on the hands and feet. Panel c shows the periorificial plaques around the mouth after treatment. MBTPS2, membrane-bound transcription factor protease, site 2. Journal of Investigative Dermatology 2013 133, 571-573DOI: (10.1038/jid.2012.289) Copyright © 2013 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 2 Sequencing results and immunohistochemical staining. (a) c.1391T>C (p.F464S) in MBTPS2. Normal (wild-type) sequence (top) compared with a female carrier (middle) and male proband (bottom). (b) ClustalW multiple sequence alignments of MBTPS2. This indicates that the phenylalanine residue at codon 464 is highly conserved. (c) Immunohistochemistry of MBTPS2. In normal male skin, MBTPS2 is expressed mainly in the upper granular layer, whereas in OS (Olmsted syndrome) skin it is expressed throughout the epidermis. Bar=20μm. MBTPS2, membrane-bound transcription factor protease, site 2. Journal of Investigative Dermatology 2013 133, 571-573DOI: (10.1038/jid.2012.289) Copyright © 2013 The Society for Investigative Dermatology, Inc Terms and Conditions