Identification of Distinct Mutations in AAGAB in Families with Type 1 Punctate Palmoplantar Keratoderma  Megan Furniss, Claire A. Higgins, Amalia Martinez-Mir, Liran Horev, Lynn Petukhova, Andrija Stanimirović, Jovan Miljković, Abraham Zlotogorski, Angela M. Christiano  Journal of Investigative Dermatology  Volume 134, Issue 6, Pages 1749-1752 (June 2014) DOI: 10.1038/jid.2014.4 Copyright © 2014 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 1 Mutations in AAGAB underlie punctate palmoplantar keratoderma (PPK). (a) Representative photographs of patients with punctate PPK. Note the disproportionate involvement of the soles over the palms, and the high degree of phenotypic variability between patients. (b) Summary and location of AAGAB mutations identified within this and previous studies. Mutations on the top half of the diagram are those identified within this study (red indicates novel mutations, whereas black indicates mutations that have been previously described). On the bottom half of the diagram are mutations that have been identified in previous studies. Within the AAGAB protein, the locations of the GTPase and adaptin-binding domains are indicated, as are the locations of the 10 exons. Journal of Investigative Dermatology 2014 134, 1749-1752DOI: (10.1038/jid.2014.4) Copyright © 2014 The Society for Investigative Dermatology, Inc Terms and Conditions