892 A novel KITLG mutation detected only in the hyperpigmented epidermis of linear and whorled nevoid hypermelanosis and functional analysis of the mutant KITLG

Linear and whorled nevoid hypermelanosis (LWNH) is characterized by hyperpigmentation following Blaschko’s line which usually occurs in infancy or early childhood. Affected individuals have no accompanying extracutaneous manifestations. Recently, a postzygotic mutation (p.Asp110Gly) the KITLG gene was identified on hyperpigmented skin of patient with LWNH. KIT-ligand (KITLG), also known as stem cell factor, acts melanocytes ligand for tyrosine kinase c-KIT receptor. In this study, we analyzed typical LWNH novel heterozygous missense mutation, c.325G>A (p.Asp109Asn) only epidermis lesion. On other hand, not normal skin. We revealed that both p.Asp109Asn- p.Asp110Gly- mutant significantly increase migration capacity compared wild type. binding these KITLGs to receptor found be reduced immunoprecipitation assays, phosphorylation c-kit immunofluorescence staining assays. These results indicate detected patients melanocytes, but do activate itself.