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

Dawn H. Siegel, Gabrielle H S Ashton, Homero G. Penagos, James V. Lee, Heidi S. Feiler, Kirk C. Wilhelmsen, Andrew P. South, Frances J D Smith, Alan R. Prescott, Vesarat Wessagowit, Noritaka Oyama, Masashi Akiyama, Daifullah Al Aboud, Khalid Al Aboud, Ahmad Al Githami, Khalid Al Hawsawi, Abla Al Ismaily, Raouf Al-Suwaid, David J. Atherton, Ruggero CaputoJo David Fine, Ilona J. Frieden, Elaine Fuchs, Richard M. Haber, Takashi Harada, Yasuo Kitajima, Susan B. Mallory, Hideoki Ogawa, Sedef Sahin, Hiroshi Shimizu, Yasushi Suga, Gianluca Tadini, Kikuo Tsuchiya, Colin B. Wiebe, Fenella Wojnarowska, Adel B. Zaghloul, Takahiro Hamada, Rajeev Mallipeddi, Robin A J Eady, W. H Irwin McLean, John A. McGrath, Ervin H. Epstein

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)174-187
Number of pages14
JournalAmerican Journal of Human Genetics
Volume73
Issue number1
DOIs
Publication statusPublished - Jul 1 2003

ASJC Scopus subject areas

  • Genetics

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    Siegel, D. H., Ashton, G. H. S., Penagos, H. G., Lee, J. V., Feiler, H. S., Wilhelmsen, K. C., South, A. P., Smith, F. J. D., Prescott, A. R., Wessagowit, V., Oyama, N., Akiyama, M., Al Aboud, D., Al Aboud, K., Al Githami, A., Al Hawsawi, K., Al Ismaily, A., Al-Suwaid, R., Atherton, D. J., ... Epstein, E. H. (2003). Loss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndrome. American Journal of Human Genetics, 73(1), 174-187. https://doi.org/10.1086/376609