title: Seven novel point mutations in the F11 gene in Iranian FXI-deficient patients.
abstract: Factor XI (FXI) deficiency disorder is caused by defects in the F11 gene. The affected patients may suffer unexpected and major bleeding after trauma. Hence, the aim of this study was to identify the mutations underlying FXI deficiency in Iranian patients. The genetic basis of FXI deficiency was investigated in nine Iranian patients from unrelated families using conformation-sensitive gel electrophoresis (CSGE) and direct sequencing. Nine different mutations were detected among which seven changes were not previously reported. Among the novel mutations, one was a point mutation that interfered with normal splicing of the mRNA; the other six changes were missense mutations that resulted in amino acid substitutions. Five mutations out of nine were heterozygous and were found in moderately affected patients, whereas the other four changes were homozygous among severely affected patients.
authors.affiliation: Pasteur Institute of Iran, Tehran, Iran. fard-esfahani@pasteur.ac.ir
authors.forename: P
authors.initials: P
authors.lastname: Fard-Esfahani
authors.forename: G R
authors.initials: GR
authors.lastname: Lari
authors.forename: S
authors.initials: S
authors.lastname: Ravanbod
authors.forename: F
authors.initials: F
authors.lastname: Mirkhani
authors.forename: M
authors.initials: M
authors.lastname: Allahyari
authors.forename: M
authors.initials: M
authors.lastname: Rassoulzadegan
authors.forename: F
authors.initials: F
authors.lastname: Ala
mesh_terms: D004252:DNA Mutational Analysis; D005172:Factor XI / Q000235:genetics*; D005173:Factor XI Deficiency; D005838:Genotype; D006801:Humans; D007492:Iran; D020125:Mutation, Missense; D017354:Point Mutation; D012326:RNA Splicing / Q000235:genetics
chemical_list: D005172:Factor XI