title: Novel splice site mutations in the gamma glutamyl carboxylase gene in a child with congenital combined deficiency of the vitamin K-dependent coagulation factors (VKCFD).
abstract: Congenital combined deficiency of the vitamin K-dependent coagulation factors is a rare bleeding disorder caused by either a defect in the gamma-glutamyl carboxylase or the vitamin K epoxide reductase enzyme complex. The diagnosis should be considered when vitamin-K dependent factor activities are decreased and liver dysfunction, vitamin K deficiency, and factitious coumarin ingestion have been excluded. We report a case of VKCFD in a child resulting from compound heterozygosity for two novel splice site mutations of the gamma-glutamyl carboxylase gene. Oral vitamin K supplementation resulted in partial resolution of proteins and complete resolution of bleeding.
authors.affiliation: Division of Pediatric Hematology Oncology, Mayo Clinic, Rochester, Minnesota 55905, USA.
authors.forename: Ruetima
authors.initials: R
authors.lastname: Titapiwatanakun
authors.forename: Vilmarie
authors.initials: V
authors.lastname: Rodriguez
authors.forename: Sumit
authors.initials: S
authors.lastname: Middha
authors.forename: Brian A
authors.initials: BA
authors.lastname: Dukek
authors.forename: Rajiv K
authors.initials: RK
authors.lastname: Pruthi