Molecular genetic analysis of inherited protein C deficiency caused by the novel large deletion across two exons of PROC

•We identified a novel large deletion of exons 7 and 8 in the PROC gene.•As causative mutation of protein C deficiency, large deletion in the PROC gene is extremely rare.•This large deletion is in-frame mutation (Val179_Leu265del) and may cause type I protein C deficiency. We kindly ask for your confirmation.•Multiplex ligation-dependent probe amplification (MLPA) and long PCR are effective to detect large deletion.