Identification of a novel F11 missense mutation (Ile463Ser) in a family with congenital factor XI deficiency.
We investigated an asymptomatic 19-year-old patient with factor XI deficiency diagnosed in the context of presurgical laboratory screening. The F11 gene was analyzed and a novel missense mutation I463S in exon 12 was identified in heterozygosity in the proband. His mother, also diagnosed with asymptomatic factor XI deficiency, was found to be heterozygous for the same mutation. This novel amino acid substitution in the serine protease catalytic domain appears to be responsible for the low factor XI levels in both individuals.
Division of Hematology, University Hospital, Geneva, Switzerland.
Yordanka
Y
Tirefort
Mario R
MR
Uhr
Marguerite
M
Neerman-Arbez
Philippe
P
de Moerloose
D000328:Adult; D019943:Amino Acid Substitution; D020134:Catalytic Domain / Q000235:genetics*; D004252:DNA Mutational Analysis; D005091:Exons; D005172:Factor XI / Q000235:genetics*; D005173:Factor XI Deficiency / Q000235:genetics*; D005260:Female; D005820:Genetic Testing; D006579:Heterozygote; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D013557:Switzerland
D005172:Factor XI