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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)

Congenital combined deficiency of the vitamin K‐dependent coagulation factors is a rare bleeding disorder caused by either a defect in the γ‐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 γ‐glutamyl carboxylase gene. Oral vitamin K supplementation resulted in partial resolution of proteins and complete resolution of bleeding. Pediatr Blood Cancer 2009;53:92–95. © 2009 Wiley‐Liss, Inc.