HUM-MOLGEN DIAGnostics/Clinical Research

June, 10 1999
Protein C deficiency

I am a hematologist in Seoul National University Hospital, Korea. I am studing inherited protein C deficiency. I confirmed genetic mutation via gene sequencing about several cases.

What I want to know is whether these cases are novel cases or not. please tell me if you know about this. Nucleotides are numbered according to the nucleotide numbering of Foster et al (Foster DC et al. Proc Natl Acad Sci USA 1985; 13: 5233)
case 1. exon 8, T7196C, result: TCC(Ser)¡æCCC(Proline)
case 2. exon 8, T7242A, result: CTC(Leu)¡æCAC(Histidine)
case 3. intron site between exon 7 and 8, CG(6290, 6291)¡æGC

In case 3, the patient was suffered from recurrent deep vein thrombosis at young age. His brother and sister are asymptomatic, but have lower protein C values. So I think this family has inherited protein C deficiency (type I).
I sequenced all genome coding protein C of case 3. I found no mutation except this intron site mutation. I don't understand how this mutation causes such quantitive deficiency. I guess the splicing process is not adequate due to this mutation.
If you have any idea, or know any fact, please tell me.

I will wait your answer.
Thank you for your kindness.

Inho Kim (MD)
Seoul National University Hospital
Seoul, Korea