Fig. 1

Family pedigree and genetic analysis of the patient and his parents. (A) Family pedigree of patient. (B) Genetic analysis of the patient and his parents. The Intergrative Genomic Viewer (IGV) demonstrates homo- and heterozygous variants of the PROC gene (NM_000312.4). The 631th reference base of coding sequence in PROC gene is C (blue color), but the patient has only T (red color) and his parents have both C and T