title: Compound heterozygous mutations in severe factor VII deficiency including a novel nonsense mutation.
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%).
authors.affiliation: Department of Laboratory Medicine, Pusan National University, School of Medicine, Seo-Gu, Busan, Korea.
authors.forename: Sun-Min
authors.initials: SM
authors.lastname: Lee
authors.forename: Yong-Seok
authors.initials: YS
authors.lastname: Heo
authors.forename: Eun-Yup
authors.initials: EY
authors.lastname: Lee
authors.forename: Chulhun L
authors.initials: CL
authors.lastname: Chang
authors.forename: Ho-Jin
authors.initials: HJ
authors.lastname: Shin
authors.forename: Joo-Seop
authors.initials: JS
authors.lastname: Chung
authors.forename: Sang-Hyun
authors.initials: SH
authors.lastname: Hwang
mesh_terms: D000328:Adult; D004252:DNA Mutational Analysis; D005168:Factor VII Deficiency / Q000150:complications / Q000235:genetics*; D006408:Hematoma, Subdural / Q000209:etiology*; D006579:Heterozygote; D006801:Humans; D008297:Male; D020125:Mutation, Missense / Q000235:genetics*; D017354:Point Mutation / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D013329:Structure-Activity Relationship