Thiviyani Maruthappu, Lisa A. McGinty, Diana C

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Date of download: 6/2/2016 Copyright © 2016 American Medical Association. All rights reserved. From: Is the Loose Anagen Hair Syndrome a Keratin Disorder?

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Recessive Mutation in FAM83G Associated with Palmoplantar Keratoderma and Exuberant Scalp Hair Thiviyani Maruthappu, Lisa A. McGinty, Diana C. Blaydon, Benjamin Fell, Arto Määttä, Rebecca Duit, Tim Hawkins, Kristin M. Braun, Michael A. Simpson, Edel A. O’Toole, David P. Kelsell Journal of Investigative Dermatology Volume 138, Issue 4, Pages 984-987 (April 2018) DOI: 10.1016/j.jid.2017.10.031 Copyright © 2017 The Authors Terms and Conditions

Figure 1 A missense variant in FAM83G is associated with autosomal recessive palmoplantar keratoderma and exuberant scalp hair. (a) Two siblings presented with diffuse palmoplantar keratoderma, displaying marked fissuring particularly affecting the soles, in combination with dystrophic toenails, leukonychia, and thick, bushy scalp hair. (b) Homozygous C to A mutation, c.101C>A, in FAM83G identified by exome sequencing was confirmed by Sanger sequencing. (c) Segregation of the mutation within the family was confirmed by restriction fragment length polymorphism analysis (genotypes in red). (d) The mutation c.101A is predicted to result in the missense variant, p.A34E, in the FAM83G protein affecting an alanine residue (indicated in red) that is evolutionary conserved across vertebrates. (e) Hematoxylin and eosin staining of affected skin reveals acanthosis. Journal of Investigative Dermatology 2018 138, 984-987DOI: (10.1016/j.jid.2017.10.031) Copyright © 2017 The Authors Terms and Conditions

Figure 2 Immunohistochemical analysis of patient skin reveals a hyperproliferative phenotype with hair shaft abnormalities. (a) Patient epidermis displays reduced FAM83G expression, marked upregulation of Ki67 and keratin 14 (K14), and increased active nuclear β-catenin expression compared with healthy control (scale bar: 50 μm). (b) Confocal imaging of the hair shaft from the affected sibling shows membrane-bound deposits on the outer cuticle of the hair shaft (scale bar: 25 μm). (c) Transmission electron microscopy of a cross section of the affected siblings’ hair shaft shows the regions of poorly differentiated cells (scale bar: 4 μm). (d) FAM83G is expressed within the murine hair follicle during anagen and (e) in catagen/early telogen (scale bar: 50 μm). DP, dermal papilla; IRS, inner root sheath. Journal of Investigative Dermatology 2018 138, 984-987DOI: (10.1016/j.jid.2017.10.031) Copyright © 2017 The Authors Terms and Conditions