A family with factor-XI deficiency due to a compound heterozygosis between Gln 47 Pro (new mutation) in exon 3 and Leu 619 Pro in exon 15.
Blood Coagul Fibrinolysis
; 25(2): 191-5, 2014 Mar.
Article
in En
| MEDLINE
| ID: mdl-24121361
ABSTRACT
A new factor XI mutation (Gln 47 Pro) has been found in combination with another known mutation (Leu 619 Pro) in a female patient with FXI deficiency and a moderate bleeding tendency. FXI activity and antigen in the proposita were 2% activity and less than 5% of normal, respectively. The parents are not consanguineous and are asymptomatic. The father is heterozygote for the new mutation whereas the mother is heterozygote for the known mutation. Other family members are heterozygotes for either one of the two mutations. The new mutation is not a polymorphism as it was not found in the population of the area. The geographical area, north-east of Italy, of the present family is the same area where a cluster of another new mutation (Ile 436 Lys) was recently reported. No relation was found between the present family and those with the previous mutation.
Full text:
1
Database:
MEDLINE
Main subject:
Exons
/
Factor XI Deficiency
/
Mutation
Limits:
Adult
/
Female
/
Humans
Language:
En
Journal:
Blood Coagul Fibrinolysis
Journal subject:
ANGIOLOGIA
/
HEMATOLOGIA
Year:
2014
Type:
Article
Affiliation country:
Italy