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

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.

SUBMITTER: Siegel DH 

PROVIDER: S-EPMC1180579 | biostudies-literature | 2003 Jul

REPOSITORIES: biostudies-literature

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

Siegel Dawn H DH   Ashton Gabrielle H S GH   Penagos Homero G HG   Lee James V JV   Feiler Heidi S HS   Wilhelmsen Kirk C KC   South Andrew P AP   Smith Frances J D FJ   Prescott Alan R AR   Wessagowit Vesarat V   Oyama Noritaka N   Akiyama Masashi M   Al Aboud Daifullah D   Al Aboud Khalid K   Al Githami Ahmad A   Al Hawsawi Khalid K   Al Ismaily Abla A   Al-Suwaid Raouf R   Atherton David J DJ   Caputo Ruggero R   Fine Jo-David JD   Frieden Ilona J IJ   Fuchs Elaine E   Haber Richard M RM   Harada Takashi T   Kitajima Yasuo Y   Mallory Susan B SB   Ogawa Hideoki H   Sahin Sedef S   Shimizu Hiroshi H   Suga Yasushi Y   Tadini Gianluca G   Tsuchiya Kikuo K   Wiebe Colin B CB   Wojnarowska Fenella F   Zaghloul Adel B AB   Hamada Takahiro T   Mallipeddi Rajeev R   Eady Robin A J RA   McLean W H Irwin WH   McGrath John A JA   Epstein Ervin H EH  

American journal of human genetics 20030603 1

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 str  ...[more]

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