Genetics of SCPCD

Protein C deficiency can be caused by hereditary mutations

Severe Congenital Protein C Deficiency (SCPCD) is a subtype of congenital Protein C (PC) deficiency, which is caused by mutations in the PC gene (PROC), located on chromosome 2 (q13-14).¹

The condition can be inherited due to heterozygous, homozygous, or compound heterozygous mutations, as demonstrated below.²

SCPCD involves cases of homozygous and compound heterozygous mutation in the PROC gene.²

SCPCD - inheritance due to homozygous and compound heterozygous mutations in the PROC gene

Frequency of the subtypes of congenital Protein C DEFICIENCY IS BASED ON THE 1995 MUTATION DATABASE UPDATE OF THE INTERNATIONAL SOCIETY ON THROMBOSIS AND HAEMOSTASIS (ISTH)^4,*

Frequency of the subtypes of Congenital Protein C Deficiency - ISTH

*Data obtained from a mutation database of 331 protein C-deficient individuals from a total of 315 unrelated probands.

**Cases of likely SCPCD²

References:

Patracchini P, et al. Sublocalization of the human protein C gene on chromosome 2q13-q14. Hum Genet. 1989;81(2):191-192.
Chalmers E, et al. Purpura fulminans: recognition, diagnosis and management. Archives of Disease in Childhood. 2011;96(11):1066-1071.
Knoebl PN. Severe congenital protein C deficiency: the use of protein C concentrates (human) as replacement therapy for life-threatening blood-clotting complications. Biologics: Targets & Therapy. 2008;2(2):285–296.
Reitsma PH, et al. Protein C deficiency: a database of mutations, 1995 update. On behalf of the Subcommittee on Plasma Coagulation Inhibitors of the Scientific and Standardization Committee of the ISTH. Thromb Haemost. 1995;73:876-889.

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Genetics of SCPCD

SCPCD involves cases of homozygous and compound heterozygous mutation in the PROC gene.2

Frequency of the subtypes of congenital Protein C DEFICIENCY IS BASED ON THE 1995 MUTATION DATABASE UPDATE OF THE INTERNATIONAL SOCIETY ON THROMBOSIS AND HAEMOSTASIS (ISTH)4,*

Interested in Severe Congenital Protein CDeficiency (SCPCD) and its management?Sign up below!

SCPCD involves cases of homozygous and compound heterozygous mutation in the PROC gene.²

Frequency of the subtypes of congenital Protein C DEFICIENCY IS BASED ON THE 1995 MUTATION DATABASE UPDATE OF THE INTERNATIONAL SOCIETY ON THROMBOSIS AND HAEMOSTASIS (ISTH)^4,*

Interested in Severe Congenital Protein C
Deficiency (SCPCD) and its management?
Sign up below!