title: Identification of a novel factor X deletion in combination with a missense mutation in the F10 gene - Genotype-phenotype correlation in a girl with severe factor X deficiency.
abstract: The genotype-phenotype relationship of compound heterozygous factor X deficiency in a young girl with severe factor X deficiency and bleeding symptoms is characterized. We identified a novel deletion of exon 6 and a missense mutation (c.856G>A, Val286Met) in exon 7 of the F10 gene leading to a compound heterozygous state and causing severe factor X deficiency. Therapeutic options for patients with symptomatic factor X deficiency are demonstrated.
authors.affiliation: Department of Pediatrics and Adolescent Medicine, University Medical Center Freiburg, 79106 Freiburg, Germany. ina.hainmann@uniklinik-freiburg.de
authors.forename: Ina
authors.initials: I
authors.lastname: Hainmann
authors.forename: J
authors.initials: J
authors.lastname: Oldenburg
authors.forename: A
authors.initials: A
authors.lastname: Pavlova
authors.forename: A
authors.initials: A
authors.lastname: Superti-Furga
authors.forename: B
authors.initials: B
authors.lastname: Zieger
mesh_terms: D005091:Exons; D005170:Factor X / Q000235:genetics*; D005171:Factor X Deficiency / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D005838:Genotype; D006470:Hemorrhage / Q000209:etiology; D006801:Humans; D007223:Infant; D020125:Mutation, Missense; D010641:Phenotype
chemical_list: D005170:Factor X