Identification of five novel mutations in the factor XI gene (F11) of patients with factor XI deficiency.
Factor XI (FXI) deficiency is an inherited autosomal recessive disorder associated with bleeding of variable severity. However, many cases of dominant disease transmission have been recently described. This disorder is rare in the general population, whereas it is commonly found in individuals of Ashkenazi Jewish ancestry. This study reports the molecular genetic analysis of FXI deficiencies in 11 unrelated families of different origin. Five novel mutations have been identified. Severe FXI deficiency of two unrelated patients resulted from two novel mutations: one deletion (960-961delGT) in exon 9 predicting a frameshift, and a Ser-4Leu mutation located in the signal peptide. In addition, three novel missense mutations associated with partial FXI deficiency have been identified: Cys122Tyr, Glu297Lys and Glu579Lys.
Quélin
Florence
F
Laboratoire de Biochimie et de Biologie Moléculaire, Hôpital Raymond Poincaré, Garches, France. Florence.quelin@rpc.ap-hop-paris.fr
Mathonnet
Florence
F
Potentini-Esnault
Catherine
C
Trigui
Nawel
N
Peynet
Jocelyne
J
Bastenaire
Brigitte
B
Guillon
Laurent
L
Bigel
Marie-Laure
ML
Sauger
Annick
A
Mazurier
Claudine
C
de Mazancourt
Philippe
P
D000328:Adult; D000368:Aged; D001483:Base Sequence / Q000235:genetics; D005172:Factor XI / Q000235:genetics*; D005173:Factor XI Deficiency / Q000235:genetics* / Q000378:metabolism; D005260:Female; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics* / Q000502:physiology; D011110:Polymorphism, Genetic
D005172:Factor XI