Homozygous Factor X gene mutations Gly380Arg and Tyr163delAT are associated with perinatal intracranial hemorrhage.
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.
Herrmann
Falko H
FH
Greifswald University Hospital, Greifswald, Germany.
Navarette
Marta
M
Salazar-Sanchez
Lizbeth
L
Carillo
Juan M
JM
Auerswald
Guenter
G
Wulff
Karin
K
D003364:Costa Rica; D004252:DNA Mutational Analysis; D005170:Factor X / Q000235:genetics*; D005171:Factor X Deficiency / Q000150:complications* / Q000235:genetics; D005260:Female; D017353:Gene Deletion; D006720:Homozygote; D006801:Humans; D007231:Infant, Newborn; D020300:Intracranial Hemorrhages / Q000235:genetics*; D008297:Male; D020125:Mutation, Missense
D005170:Factor X