Fig. 2

Sequence Diagrams for the Patient and Parents. A genetic evaluation revealed the patient had compound heterozygous mutations of the PROC gene (NM-000312.3) inherited from the father and mother individually. From the father, a c._262 G > T mutation in exon 4 (red arrows in a–c). From the mother, a c.400 + 5G > A micromutation in intron 5 (red arrows in d–f). Both parents were heterozygous carriers for the mutation individually