Kindler surprise: mutations in a novel actin-associated protein cause Kindler syndrome

J Dermatol Sci. 2005 Jun;38(3):169-75. doi: 10.1016/j.jdermsci.2004.12.026. Epub 2005 Mar 31.

Abstract

Kindler syndrome is an autosomal recessive genodermatosis characterized by acral blistering in neonates and diffuse, progressive poikiloderma in later life. Other clinical features include photosensitivity, premature skin ageing and severe periodontal disease. Two groups have recently shown that the molecular basis of Kindler syndrome is loss of a novel epidermal protein, kindlin-1, encoded by the gene KIND1. Two additional kindlin proteins, kindlin-2 and kindlin-3, have also been described. Kindlin-1 is considered to be a component in the linkage of the actin cytoskeleton to the extracellular matrix and as such is proposed to have both structural and cell-signalling functions. Kindler syndrome is therefore the first skin fragility syndrome due to disruption of the actin-extracellular matrix system.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Actins / metabolism
  • Epidermolysis Bullosa Dystrophica / genetics*
  • Epidermolysis Bullosa Dystrophica / metabolism
  • Epidermolysis Bullosa Dystrophica / pathology
  • Extracellular Matrix Proteins / chemistry
  • Extracellular Matrix Proteins / genetics*
  • Extracellular Matrix Proteins / metabolism
  • Humans
  • Membrane Proteins
  • Mutation*
  • Neoplasm Proteins
  • Periodontal Diseases / genetics
  • Photosensitivity Disorders / genetics
  • Rothmund-Thomson Syndrome / genetics*
  • Rothmund-Thomson Syndrome / metabolism
  • Rothmund-Thomson Syndrome / pathology
  • Skin Aging / genetics
  • Syndrome

Substances

  • Actins
  • Extracellular Matrix Proteins
  • FERMT1 protein, human
  • Membrane Proteins
  • Neoplasm Proteins