Tanasit Techanukul, Gomathy Sethuraman, Abraham Zlotogorski, Liran Horev, Michal Macarov, Alison Trainer, Kenneth Fong, Marko Lens, Ljiljana Medenica, Venkatesh Ramesh, John A. McGrath, Joey E. Lai-Cheong
DOI: 10.2340/00015555-1063

Kindler syndrome (OMIM 173650) is an autosomal recessive condition characterized by skin blistering, skin atrophy, photosensitivity, colonic inflammation and mucosal stenosis. Fewer than 100 cases have been described in the literature. First reported in 1954, the molecular basis of Kindler syndrome was elucidated in 2003 with the discovery of FERMT1 (KIND1) loss-of-function mutations in affected individuals. The FERMT1 gene encodes kindlin-1 (also known as fermitin family homologue 1), a 77 kDa protein that localizes at focal adhesions, where it plays an important role in integrin signalling. In the current study, we describe five novel and three recurrent loss-of-function FERMT1 mutations in eight individuals with Kindler syndrome, and provide an overview of genotype-phenotype correlation in this disorder.

Figure S1