Mutations in the Keratin 85 (KRT85/hHb5) Gene Underlie Pure Hair and Nail Ectodermal Dysplasia Yutaka Shimomura, Muhammad Wajid, Mazen Kurban, Nobuyuki.

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Mutations in the Keratin 85 (KRT85/hHb5) Gene Underlie Pure Hair and Nail Ectodermal Dysplasia Yutaka Shimomura, Muhammad Wajid, Mazen Kurban, Nobuyuki Sato, Angela M. Christiano Journal of Investigative Dermatology Volume 130, Issue 3, Pages 892-895 (March 2010) DOI: 10.1038/jid.2009.341 Copyright © 2010 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 1 Pedigrees and clinical appearance of two Pakistani families with PHNED. (a) Pedigrees and results of haplotype analysis. The linked haplotypes are indicated in red, and critical recombination events are indicated by arrows. (b–e) Clinical features of affected individuals in Family A. (f) SEM observation of hair of an affected individual in Family A. Bar=100μm. (g, h) Clinical features of affected individuals in Family B. Note that affected individuals in Family B show a more severe phenotype than those in Family A. Journal of Investigative Dermatology 2010 130, 892-895DOI: (10.1038/jid.2009.341) Copyright © 2010 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 2 Identification of mutations in the KRT85 gene. (a) A novel homozygous mutation c.1448_1449delCT (p.Pro483ArgfsX18) in the KRT85 gene in Family A. The deleted nucleotides are boxed. (b) Comparison of amino acid sequences between wild-type and the mutant K85 proteins with the mutation p.Pro483ArgfsX18. Amino acid position 483, where the frameshift occurs, is indicated by an arrow. Cysteine residues at positions 489 and 498 in wild-type protein are in blue. Asterisks, stop codon. (c) A homozygous mutation c.233G>A (p.Arg78His) in the KRT85 gene in Family B. Journal of Investigative Dermatology 2010 130, 892-895DOI: (10.1038/jid.2009.341) Copyright © 2010 The Society for Investigative Dermatology, Inc Terms and Conditions