Kindler surprise: mutations in a novel actin-associated protein cause Kindler syndrome.
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.
White
Sharon J
SJ
Epithelial Genetics Group, Human Genetics Unit, University of Dundee, Ninewells Medical School, UK. swhite@hgmp.mrc.ac.uk
McLean
W H Irwin
WH
D000199:Actins / Q000378:metabolism; D016108:Epidermolysis Bullosa Dystrophica / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D016326:Extracellular Matrix Proteins / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D008565:Membrane Proteins; D009154:Mutation; D009363:Neoplasm Proteins; D010510:Periodontal Diseases / Q000235:genetics; D010787:Photosensitivity Disorders / Q000235:genetics; D011038:Rothmund-Thomson Syndrome / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D015595:Skin Aging / Q000235:genetics; D013577:Syndrome
D000199:Actins; D016326:Extracellular Matrix Proteins; C475301:FERMT1 protein, human; D008565:Membrane Proteins; D009363:Neoplasm Proteins