Homozygous Factor X gene mutations Gly380Arg and Tyr163delAT are associated with perinatal intracranial hemorrhage

Falko H Herrmann; Marta Navarette; Lizbeth Salazar-Sanchez; Juan M Carillo; Guenter Auerswald; Karin Wulff

doi:10.1016/j.jpeds.2004.08.049

Homozygous Factor X gene mutations Gly380Arg and Tyr163delAT are associated with perinatal intracranial hemorrhage

J Pediatr. 2005 Jan;146(1):128-30. doi: 10.1016/j.jpeds.2004.08.049.

Authors

Falko H Herrmann¹, Marta Navarette, Lizbeth Salazar-Sanchez, Juan M Carillo, Guenter Auerswald, Karin Wulff

Affiliation

¹ Greifswald University Hospital, Greifswald, Germany.

PMID: 15644837
DOI: 10.1016/j.jpeds.2004.08.049

Abstract

Intracranial hemorrhage (ICH) is a severe complication of Factor X (FX) deficiency. We report 6 homozygous patients with central nervous system (ICH) bleeds. Five patients are homozygous for the mutation Gly380Arg and one for the novel deletion Tyr163delAT. We describe the association of these mutations with ICH bleeding.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Costa Rica
DNA Mutational Analysis
Factor X / genetics*
Factor X Deficiency / complications*
Factor X Deficiency / genetics
Female
Gene Deletion*
Homozygote*
Humans
Infant, Newborn
Intracranial Hemorrhages / genetics*
Male
Mutation, Missense*

Substances

Factor X