title: 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.
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.
authors.affiliation: aDepartment of Medicine, University of Padua Medical School, Padua bBlood Transfusion Center, Pordenone City Hospital, Pordenone, Italy.
authors.forename: Antonio
authors.initials: A
authors.lastname: Girolami
authors.forename: Luisa
authors.initials: L
authors.lastname: Sambado
authors.forename: Edoardo
authors.initials: E
authors.lastname: Peroni
authors.forename: Liliana
authors.initials: L
authors.lastname: Santarossa
authors.forename: Anna M
authors.initials: AM
authors.lastname: Lombardi
mesh_terms: D000328:Adult; D005091:Exons; D005173:Factor XI Deficiency / Q000235:genetics*; D005260:Female; D006579:Heterozygote; D006801:Humans; D009154:Mutation; D055815:Young Adult