Clinical, Genetics, and Bioinformatic Characterization of Mutations Affecting an Essential Region of <i>PLS3</i> in Patients with BMND18

Abstract

This report identified a novel mutation that truncates the PLS3 gene. Moreover, bioinformatic analyses of the previous reported mutations in <i>PLS3</i> gene lead us to find a critical LOOP-1 region of plastin-3 mutations at which may be detrimental to the integral conformation of plastin-3 and thus affect its binding to actin filament.