Epidermodysplasia Verruciformis: Genetic Heterogeneity and EVER1 and EVER2 Mutations Revealed by Genome-Wide Analysis Leila Youssefian, Hassan Vahidnezhad,

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Epidermodysplasia Verruciformis: Genetic Heterogeneity and EVER1 and EVER2 Mutations Revealed by Genome-Wide Analysis Leila Youssefian, Hassan Vahidnezhad, Hamidreza Mahmoudi, Amir Hossein Saeidian, Maryam Daneshpazhooh, Kambiz Kamyab Hesari, Sirous Zeinali, Sarah Jill de Jong, Gérard Orth, Claudine Blanchet-Bardon, Emmanuelle Jouanguy, Jean-Laurent Casanova, Jouni Uitto Journal of Investigative Dermatology Volume 139, Issue 1, Pages 241-244 (January 2019) DOI: 10.1016/j.jid.2018.07.010 Copyright © 2018 The Authors Terms and Conditions

Figure 1 Clinical features and mutation detection in families with epidermodysplasia verruciformis (EV). (a–c) The proband in family 1 has flat verrucous lesions, verrucous tumors, and squamous cell carcinomas (yellow arrows) at the age of 61 years. (d) The proband of family 2 has numerous flat warts at the age of 14 years. (e, f) The patient in family 3 has squamous cell carcinoma and a number of warty lesions on the trunk at the age of 10 years. (g) Histopathology of affected skin shows a basket weave-like cornified layer, mild hyperkeratosis, and acanthosis with large cells with blue-gray cytoplasm with keratohyalin granules both in the granular and spinosum layers reflecting HPV infection. Scale bar = 200 μm). (h, i) Sequencing of TMC8 (EVER2) in patients shown in a–c identified, to our knowledge, previously unreported mutations: c.1477_1485dup (family 1) and c.1233C>A; p.Tyr411Ter (family 2). (j) Sequencing of (EVER1) identified, to our knowledge, a previously unreported mutation: c.1110C>G; p.Tyr370Ter (family 3). (k) Alignment of homozygosity blocks (blue bars) in DNA from the proband of family 1 with the genomic positions of genes previously shown to be associated with EV identified TMC6/8 as potential candidate genes (red), which were interrogated by Sanger sequencing, revealing the homozygous mutation in EVER2. The positions of TMC6/8, which overlapped with a ROH in patient 1, are highlighted with red. HPV, human papillomavirus. Images published with patients’ consent. Journal of Investigative Dermatology 2019 139, 241-244DOI: (10.1016/j.jid.2018.07.010) Copyright © 2018 The Authors Terms and Conditions