A Novel GJB2 Mutation p.Asn54His in a Patient with Palmoplantar Keratoderma, Sensorineural Hearing Loss and Knuckle Pads Masashi Akiyama, Kaori Sakai,

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A Novel GJB2 Mutation p.Asn54His in a Patient with Palmoplantar Keratoderma, Sensorineural Hearing Loss and Knuckle Pads Masashi Akiyama, Kaori Sakai, Ken Arita, Yukiko Nomura, Kei Ito, Kazuo Kodama, James R. McMillan, Kinuko Kobayashi, Daisuke Sawamura, Hiroshi Shimizu Journal of Investigative Dermatology Volume 127, Issue 6, Pages 1540-1543 (June 2007) DOI: 10.1038/sj.jid.5700711 Copyright © 2007 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 1 The patient's clinical features, GJB2 mutation, gap junction ultrastructure and upregulated connexin26 expression. (a–c) The patient's clinical features at the age of 12. (a) Severe knuckle pads were seen over all the fingers. (b) The knuckle pads were sharply demarcated, hyperkeratotic plaques. (b) Nails were not involved. (c) Hyperkeratotic plaques resembling knuckle pads were seen in the toes and periphery of the foot. (d) Mutation in connexin26 gene (GJB2). A novel heterozygous A to C substitution at the codon 54 (c.160A>C) was detected in the patient's genomic DNA. This mutation leads to the amino-acid substitution, p.Asn54His. (e) A gap junction with normal, typical pentalaminar structure, 20nm in width, was observed in the periphery of the keratinocyte in the lesional epidermis on the palm. Arrows, gap junction; arrowhead, desmosome. (f) Upregulated connexin26 expression was seen in the spinous layers of the patient's lesional skin in the palm. (g) In the normal control palmar skin, weak connexin26 immunostaining (green) was observed in the spinous layers (white arrows). Connexin26 immunostaining, green (FITC); nuclear staining, red (propidium iodide). (e) Bar=100nm and (g) 50μm. Journal of Investigative Dermatology 2007 127, 1540-1543DOI: (10.1038/sj.jid.5700711) Copyright © 2007 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 2 Connexin26 molecular structure, mutations and their associated skin syndromes. Connexin26 gene (GJB2) mutations associated with syndromic SNHL cluster in the N-terminal portion of connexin26, mainly in the first extracellular loop. Note all the mutations associated with knuckle pads affect asparagines 54 or glycine 59. Asterisk represents the present case. Journal of Investigative Dermatology 2007 127, 1540-1543DOI: (10.1038/sj.jid.5700711) Copyright © 2007 The Society for Investigative Dermatology, Inc Terms and Conditions