C-terminally truncated kindlin-1 leads to abnormal adhesion and migration of keratinocytes

Abstract

Background: The Kindler syndrome (KS) protein kindlin-1 is a member of a protein complex that links cortical actin to integrins on the surface of basal keratinocytes. Loss of kindlin-1 leads to abnormalities of cell adhesion and motility, and to skin blistering and progressive poikiloderma as clinical symptoms. Objectives: Here we investigated a severely affected patient, disclosed the mutation that caused the disease and delineated its biological consequences. Methods: Mutation screening of the kindlin-1 gene, KIND1 (now called FERMT1), was performed with polymerase chain reaction (PCR) amplification of all exons and sequencing. Mutated kindlin-1 was characterized by reverse transcriptase (..