The PROS1 gene encodes a protein which plays an important role in taming blood coagulation, so inactivating mutations bring about a higher risk of intravascular coagulation, increased risk of thrombosis. Protein S deficiency is inherited either autosomal dominant or recessive.
The prevalence of protein C deficiency is 0,03-0,13%. This figure is much higher among patients with thromboembolic diseases (1-5%) and it might rise up to 15% among younger patient. In Patients with Cerebral infarctions occurring without apparent reason before age of 45 this figure is even 20%.
The gene can be abreviated by PROS1. Its locus is on chromosom 3 (3p11.1-q11.2). Size is about 95kb and it consists of 15 exons.
Clinically important are thromboembolic diseases. Cerebral infarktion before age of 45 are suspect too. An aquired protein S deficiency must be excluded.
The protein product is a vitamin K dependent cofactor for activated protein C. It is produced in liver, endothelial and cells.
Patient with biochemical evidence of Protein S deficiency when a secondary reason is excluded. Family screening if a family member is a carrier.
The mutation is rare but the relative risk for thromboembolic diseases is is 8,2.
Clinic | Method | Carrier testing |
Turnaround | 5 days | |
Specimen type | genomic DNA |
Clinic | Method | Massive parallel sequencing |
Turnaround | 25 days | |
Specimen type | genomic DNA |
Clinic | Method | Genomic sequencing of the entire coding region |
Turnaround | 20 days | |
Specimen type | genomic DNA |
Clinic | Method | Multiplex Ligation-Dependent Probe Amplification |
Turnaround | 20 days | |
Specimen type | genomic DNA |
1. |
Tsuda H et al. (2002) Four missense mutations identified in the protein S gene of thrombosis patients with protein S deficiency: effects on secretion and anticoagulant activity of protein S. |
2. |
Watkins PC et al. (1988) The gene for protein S maps near the centromere of human chromosome 3. |
3. |
Hoskins J et al. (1987) Cloning and characterization of human liver cDNA encoding a protein S precursor. |
4. |
Duchemin J et al. (1995) The Ser 460 to Pro substitution of the protein S alpha (PROS1) gene is a frequent mutation associated with free protein S (type IIa) deficiency. |
5. |
Douay X et al. (1998) Antithrombin, protein C and protein S levels in 127 consecutive young adults with ischemic stroke. |
6. |
Orphanet article Orphanet ID 118053 |
7. |
NCBI article NCBI 5627 |
8. |
OMIM.ORG article Omim 176880 |
9. |
Wikipedia article Wikipedia EN (Protein_S) |