A Heterozygous Frameshift Mutation in the V1 Domain of Keratin 5 in a Family with Dowling–Degos Disease Haihui Liao, Yiwei Zhao, David U. Baty, John.

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A Heterozygous Frameshift Mutation in the V1 Domain of Keratin 5 in a Family with Dowling–Degos Disease Haihui Liao, Yiwei Zhao, David U. Baty, John A. McGrath, Jemima E. Mellerio, W.H. Irwin McLean Journal of Investigative Dermatology Volume 127, Issue 2, Pages 298-300 (February 2007) DOI: 10.1038/sj.jid.5700523 Copyright © 2007 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 1 Clinicopathological features of the reticulate pigmented eruption. (a) Numerous hyperpigmented papules on the neck; (b) grouped erythematous papules below both breasts; (c) papules in the right infra-mammary fold shown at higher magnification; and (d) light microscopy reveals acanthosis with marked papillomatosis interspersed by keratin-filled invaginations (*) and dermal pigmentary incontinence. Arrows indicate the many filiform protrusions of the epidermis into the dermis. Bar=0.1mm. Journal of Investigative Dermatology 2007 127, 298-300DOI: (10.1038/sj.jid.5700523) Copyright © 2007 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 2 Molecular genetic analysis of KRT5 in DDD. (a) Direct DNA sequencing of exon 1 of KRT5, codons 146–150 (+strand) from a normal individual. An AG repeat is boxed. (b) The same stretch of sequence shown in (a) derived from the proband. Overlapping sequences commence following the first AG repeat (boxed), indicative of a frameshift mutation. (c) The equivalent stretch of sequence derived from a cloned PCR fragment corresponding to the mutant, deleted allele from the proband, confirming that one of the AG repeats has been deleted (boxed). The genomic mutation is designated as c.442delAG. The frameshift leads to a TAA codon 30 codons downstream, designated as p.S148fsX30 in protein nomenclature. Journal of Investigative Dermatology 2007 127, 298-300DOI: (10.1038/sj.jid.5700523) Copyright © 2007 The Society for Investigative Dermatology, Inc Terms and Conditions