CASE REPORTCompound heterozygous mutations in severe factor VII deficiency including a novel nonsense mutationLee, Sun-Mina; Heo, Yong-Seokb; Lee, Eun-Yupa; Chang, Chulhun La; Shin, Ho-Jinc; Chung, Joo-Seopc; Hwang, Sang-Hyuna,dAuthor Information aDepartment of Laboratory Medicine, Pusan National University, School of Medicine, Busan, Korea bDepartment of Chemistry, Konkuk University, Seoul, Korea cDepartment of Internal Medicine, Pusan National University, School of Medicine, Busan, Korea dMedical Research Institute, Pusan National University, Busan, Korea Received 28 June, 2007 Accepted 24 August, 2007 Correspondence to Prof. Sang-Hyun Hwang, MD, PhD, Department of Laboratory Medicine, Pusan National University Hospital, 1-10 Ami-Dong, Seo-Gu, Busan, Republic of Korea Tel: +82 51 240 7418; fax: +82 51 247 6560; e-mail: firstname.lastname@example.org Blood Coagulation & Fibrinolysis: January 2008 - Volume 19 - Issue 1 - p 92-94 doi: 10.1097/MBC.0b013e3282f185ed Buy Metrics Abstract A 26-year-old man who had a history of recurrent spontaneous nasal bleeding was admitted to our hospital with uncontrolled traumatic subdural hemorrhage. His plasma factor VII activity was less than 10% of normal. DNA sequence analysis revealed that the proband had a compound heterozygote for a novel nonsense mutation (F7 NM_000131.2 c.345C > A; p.Cys115X) in exon 4 encoding the EGF1 domain and a known missense mutation (F7 NM_000131.2 c.1027G > A; p.Gly343Ser) in exon 8 encoding the serine protease domain of F7. The same F7 Gly343Ser mutation was present in the asymptomatic father, who exhibited a modest reduction in the plasma level of factor VII activity (48%). © 2008 Lippincott Williams & Wilkins, Inc.