2. Academic Validation
  3. Mutations in AQP5, encoding a water-channel protein, cause autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma

Mutations in AQP5, encoding a water-channel protein, cause autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma

  • Am J Hum Genet. 2013 Aug 8;93(2):330-5. doi: 10.1016/j.ajhg.2013.06.008.
Diana C Blaydon 1,  Lisbet K Lind,  Vincent Plagnol,  Kenneth J Linton,  Francis J D Smith,  Neil J Wilson,  W H Irwin McLean,  Colin S Munro,  Andrew P South,  Irene M Leigh,  Edel A O'Toole,  Anita Lundström,  David P Kelsell
Affiliations

Affiliation

  • 1 Centre for Cutaneous Research, Blizard Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, Whitechapel, London E1 2AT, UK. Electronic address: d.blaydon@qmul.ac.uk.
PMID: 23830519 DOI: 10.1016/j.ajhg.2013.06.008
Abstract

Autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma is characterized by the adoption of a white, spongy appearance of affected areas upon exposure to water. After exome Sequencing, missense mutations were identified in AQP5, encoding water-channel protein aquaporin-5 (AQP5). Protein-structure analysis indicates that these AQP5 variants have the potential to elicit an effect on normal channel regulation. Immunofluorescence data reveal the presence of AQP5 at the plasma membrane in the stratum granulosum of both normal and affected palmar epidermis, indicating that the altered AQP5 proteins are trafficked in the normal manner. We demonstrate here a role for AQP5 in the palmoplantar epidermis and propose that the altered AQP5 proteins retain the ability to form open channels in the cell membrane and conduct water.

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