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

Ina Hainmann; J Oldenburg; A Pavlova; A Superti-Furga; B Zieger

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

Hamostaseologie. 2009 May;29(2):184-6.

Authors

Ina Hainmann¹, J Oldenburg, A Pavlova, A Superti-Furga, B Zieger

Affiliation

¹ Department of Pediatrics and Adolescent Medicine, University Medical Center Freiburg, 79106 Freiburg, Germany. [email protected]

PMID: 19404516

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.

Publication types

Case Reports

MeSH terms

Exons
Factor X / genetics*
Factor X Deficiency / diagnosis
Factor X Deficiency / genetics*
Female
Gene Deletion
Genotype
Hemorrhage / etiology
Humans
Infant
Mutation, Missense
Phenotype

Substances

Factor X