Identification of a novel factor X deletion in combination with a missense mutation in the F10 gene

Summary

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.

Zusammenfassung

Dieser Artikel charakterisiert das Verhältnis von Genotyp zu Phänotyp bei compound heterozygotem Faktor-X-Mangel anhand des Falles eines Mädchens mit schwerem symptomatischen Faktor-X-Mangel. Wir konnten erstmalig eine Deletion von Exon 6 und eine Missense-Mutation (c.856G>A, Val286Met) in Exon 7 des F10-Gens als ursächlich für einen schweren Faktor-X-Mangel identifizieren. Des Weiteren werden therapeutische Optionen für symptomatische Patienten mit schwerem Faktor-X-Mangel dargestellt.

Keywords

Factor X deficiency - compound heterozygous mutation - deletion - missense mutation

Schlüsselwörter

Faktor-X-Mangel - compound heterozygote Mutation - Deletion - Missense-Mutation

• References

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