Unexplained discrepancies in the activity--antigen ratio in congenital FX deficiencies with defects in the catalytic domain.
Clin Appl Thromb Hemost
; 15(6): 621-7, 2009 Dec.
Article
in En
| MEDLINE
| ID: mdl-19666942
ABSTRACT
Studies on molecular biology have considerably enhanced our understanding of congenital coagulation disorders but have failed so far to supply tools for an adequate classification of defects. In fact, mutations in the same domain may give rise to different phenotypes. Conversely, mutations in different domains, controlled by different exons, may cause similar patterns. The 37 kindreds with congenital factor X (FX) deficiency, known to have a defect in the catalytic domain, have been evaluated in an attempt to investigate the genotype-phenotype relation. Discrepant results were obtained because about half kindreds showed a type I pattern, namely a concomitant decrease in FX activity and antigen. The other half showed a type II pattern, namely a decrease in FX activity with a normal or near normal FX antigen. In a few instances, the allocation of the kindred either to type I or to type II defect could not be reached, due to the lack of information about the antigen. The comparison of the kindreds in which the same mutation has been discovered by different investigations is not always possible also for lack of information. The study analyzes the need to have a multipronged approach to the study of congenital FX deficiency. The indication of a mutation in a given domain does not provide clear information about the phenotype.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Catalytic Domain
/
Factor X Deficiency
/
Mutation
Limits:
Humans
Language:
En
Journal:
Clin Appl Thromb Hemost
Journal subject:
ANGIOLOGIA
Year:
2009
Document type:
Article
Affiliation country:
Italy