title: A novel FLT4 mutation identified in a patient with Milroy disease.
abstract: Milroy disease is an autosomal dominant disorder generally presenting with below the knee lymphedema at birth. It is linked to mutations in the tyrosine kinase domain of the VEGFR3 protein which is encoded in the FLT4 gene. Here we report a case of Milroy disease in a patient with a dominant pattern of inheritance, classical physical findings, and lymphatic system imaging demonstrating lack of tracer transport in the lower limbs. Genetic analysis revealed a novel missense mutation compared to a summary of reported mutations causing Milroy Disease.
authors.forename: R M
authors.initials: RM
authors.lastname: DiGiovanni
authors.forename: R P
authors.initials: RP
authors.lastname: Erickson
authors.forename: E C
authors.initials: EC
authors.lastname: Ohlson
authors.forename: M
authors.initials: M
authors.lastname: Bernas
authors.forename: M H
authors.initials: MH
authors.lastname: Witte
mesh_terms: D000293:Adolescent; D004252:DNA Mutational Analysis; D020022:Genetic Predisposition to Disease; D040941:Heredity; D006801:Humans; D008209:Lymphedema / Q000000981:diagnostic imaging / Q000235:genetics*; D061305:Lymphoscintigraphy; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D010641:Phenotype; D040321:Vascular Endothelial Growth Factor Receptor-3 / Q000235:genetics*
chemical_list: C581309:FLT4 protein, human; D040321:Vascular Endothelial Growth Factor Receptor-3