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Am J Hum Genet. 2003 Jul;73(1):174-87. Epub 2003 Jun 3.

Loss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndrome.

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1
Department of Dermatology, San Francisco General Hospital, University of California-San Francisco, 1001 Potrero Avenue, San Francisco, CA 94110, USA.

Abstract

Kindler syndrome is an autosomal recessive disorder characterized by neonatal blistering, sun sensitivity, atrophy, abnormal pigmentation, and fragility of the skin. Linkage and homozygosity analysis in an isolated Panamanian cohort and in additional inbred families mapped the gene to 20p12.3. Loss-of-function mutations were identified in the FLJ20116 gene (renamed "KIND1" [encoding kindlin-1]). Kindlin-1 is a human homolog of the Caenorhabditis elegans protein UNC-112, a membrane-associated structural/signaling protein that has been implicated in linking the actin cytoskeleton to the extracellular matrix (ECM). Thus, Kindler syndrome is, to our knowledge, the first skin fragility disorder caused by a defect in actin-ECM linkage, rather than keratin-ECM linkage.

PMID:
12789646
PMCID:
PMC1180579
DOI:
10.1086/376609
[Indexed for MEDLINE]
Free PMC Article
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