June, 10 1999
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 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.