A novel homozygous missense mutation in the factor VII gene of severe factor VII deficiency in a newborn baby.
A term male infant born to nonconsanguineous parents was admitted to the hospital for evaluation of lethargy and a pale appearance on the third day of life. He had anemia from an intracranial hemorrhage, and his coagulation factor assay revealed that his bleeding episode was due to severe congenital factor VII deficiency (5% of normal activity). An A-to-G point mutation in the acceptor splice site of intron 5 was identified at nucleotide position 9418. Sequence analysis of the factor VII gene in the parents revealed that they were both heterozygous for a G-to-A transversion at nucleotide position 9418 (IVS5-1) between intron 5 and exon 6. A genetic study involving a patient with a congenitally inherited disease and the parents can confirm the genetic background of the disease and can be used for prenatal guidance to exclude severe bleeding disorders.
Lee
Jung H
JH
Department of Pediatrics, College of Medicine, Holy Family Hospital, Catholic University of Korea, #2 Sosa-Dong,Wonmi-Gu, Pucheon-Si, Gyeonggi-Do, Korea.
Lee
Hee J
HJ
Bin
Joong H
JH
Hahn
Seung H
SH
Kim
So Y
SY
Kim
Hyun H
HH
Lee
Won B
WB
D000328:Adult; D005167:Factor VII / Q000235:genetics*; D005168:Factor VII Deficiency / Q000000981:diagnostic imaging / Q000235:genetics*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000000981:diagnostic imaging / Q000235:genetics*; D020300:Intracranial Hemorrhages / Q000000981:diagnostic imaging / Q000235:genetics; D007438:Introns / Q000235:genetics; D008297:Male; D017354:Point Mutation; D022821:RNA Splice Sites / Q000235:genetics*; D011859:Radiography
D022821:RNA Splice Sites; D005167:Factor VII