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Heterozygous Mutations in AAGAB Cause Type 1 Punctate Palmoplantar Keratoderma with Evidence for Increased Growth Factor Signaling  Elizabeth Pöhler,

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Presentation on theme: "Heterozygous Mutations in AAGAB Cause Type 1 Punctate Palmoplantar Keratoderma with Evidence for Increased Growth Factor Signaling  Elizabeth Pöhler,"— Presentation transcript:

1 Heterozygous Mutations in AAGAB Cause Type 1 Punctate Palmoplantar Keratoderma with Evidence for Increased Growth Factor Signaling  Elizabeth Pöhler, Mozheh Zamiri, Catriona P. Harkins, Julio C. Salas-Alanis, William Perkins, Frances J.D. Smith, W.H. Irwin McLean, Sara J. Brown  Journal of Investigative Dermatology  Volume 133, Issue 12, Pages (December 2013) DOI: /jid Copyright © 2013 The Society for Investigative Dermatology, Inc Terms and Conditions

2 Figure 1 Clinical images of punctate palmoplantar keratoderma cases. (a) Proband from kindred 1 illustrating focal punctate callosity on palmar skin and diffuse hyperkeratosis on plantar skin (b). Palm (c) and sole (d) of a 74-year-old woman from kindred 2 showing punctate lesions coalescing to form focal areas of marked hyperkeratosis. Affected individuals from kindred 5 showing typical focal calluses on palmar skin (e) and coalescence of the lesions on plantar pressure points (f). The proband from kindred 6 is shown in g and h, demonstrating subtle discrete hyperkeratotic papules on the palmar skin with more marked hyperkeratotic foci, which coalesce in weight-bearing areas on the plantar skin. Arrows indicate punctate hyperkeratotic lesions. Clinical images from the cases in kindreds 3 and 4 are shown in Supplementary Figures 3a, b, and 4a, b online. Journal of Investigative Dermatology  , DOI: ( /jid ) Copyright © 2013 The Society for Investigative Dermatology, Inc Terms and Conditions

3 Figure 2 Family tree and microsatellite markers showing linkage patterns in kindred 6. Two regions of microsatellite repeats were screened: one marker within intron 5 and a second marker within intron 1 of AAGAB. Numbers indicate the length (in base pairs) of PCR products for each marker from each allele. The microsatellite marker of intron 1 is absent from one allele of AAGAB in PPKP1-affected individuals, indicating a genomic deletion resulting in hemizygosity. Journal of Investigative Dermatology  , DOI: ( /jid ) Copyright © 2013 The Society for Investigative Dermatology, Inc Terms and Conditions

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