A novel homozygous missense mutation in the factor VII gene of severe factor VII deficiency in a newborn baby

• DOI: 10.1097/mbc.0b013e3283258028
• Publication Date: 2009-02-23T08:22:57Z
• Authors: Jung H Lee; Hee J Lee; Joong H Bin; Seung H Hahn; So Y Kim; Hyun H Kim; Won B Lee
• Keywords: Transversion; Lethargy; Nonsense mutation

A term male infant born to nonconsanguineous parents was admitted the hospital for evaluation of lethargy and a pale appearance on third day life. He had anemia from an intracranial hemorrhage, his coagulation factor assay revealed that bleeding episode due severe congenital VII deficiency (5% normal activity). An A-to-G point mutation in acceptor splice site intron 5 identified at nucleotide position 9418. Sequence analysis gene they were both heterozygous G-to-A transversion 9418 (IVS5-1) between exon 6. genetic study involving patient with congenitally inherited disease can confirm background be used prenatal guidance exclude disorders.