title: Identification of genetic defects underlying FVII deficiency in 10 patients belonging to eight unrelated families of the North provinces from Tunisia.
abstract: Inherited factor VII (FVII) deficiency is a rare disorder characterized by a bleeding phenotype varying from mild to severe. To date, more than 200 mutations have been described along the F7 gene encoding for FVII. The aim of this study was the identification of genetic defects underlying FVII deficiency in 10 patients belonging to eight unrelated families of the North provinces from Tunisia. Mutation detection was performed by sequencing the whole F7 gene coding region, exon-intron boundaries and about 400 bp of the promoter region. We identified 5 mutations in five unrelated families; the novel p.F328Y mutation and the reported mutations: p.R304Q, p.M298I, IVS1aG > A and p.G-39G. For the remaining 5 patients we didn't identified any mutations using PCR/Sequencing protocol. In conclusion, this study represents the first comprehensive molecular series of FVII deficiency affected patients in Tunisia from the North. We will try in the future to continue the molecular study for Tunisian patients from Center and South provinces in order to have a complete idea about the FVII deficiency mutational profile in our country.
  The virtual slide(s) for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/1288044089753085.
authors.affiliation: Laboratory of Genetics, Immunology and Human Pathologies, Tunis, Tunisia. hejer.abdalah@gmail.com
authors.forename: Hejer
authors.initials: H
authors.lastname: Elmahmoudi
authors.forename: Fatma
authors.initials: F
authors.lastname: Ben-Lakhal
authors.forename: Wijden
authors.initials: W
authors.lastname: Elborji
authors.forename: Asma
authors.initials: A
authors.lastname: Jlizi
authors.forename: Kaouther
authors.initials: K
authors.lastname: Zahra
authors.forename: Rim
authors.initials: R
authors.lastname: Sassi
authors.forename: Moez
authors.initials: M
authors.lastname: Zorgan
authors.forename: Balkis
authors.initials: B
authors.lastname: Meddeb
authors.forename: Amel
authors.initials: A
authors.lastname: Elgaaied Ben Ammar
authors.forename: Emna
authors.initials: E
authors.lastname: Gouider
mesh_terms: D000293:Adolescent; D000328:Adult; D001777:Blood Coagulation / Q000187:drug effects / Q000235:genetics*; D001779:Blood Coagulation Factors / Q000627:therapeutic use; D003029:Coagulants / Q000627:therapeutic use; D003288:Contusions / Q000097:blood / Q000235:genetics; D004252:DNA Mutational Analysis; D004844:Epistaxis / Q000097:blood / Q000235:genetics; D005091:Exons; D005167:Factor VII / Q000235:genetics*; D005168:Factor VII Deficiency / Q000097:blood / Q000188:drug therapy / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007438:Introns; D008297:Male; D008595:Menorrhagia / Q000097:blood / Q000235:genetics; D008796:Metrorrhagia / Q000097:blood / Q000235:genetics; D008875:Middle Aged; D009154:Mutation; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic; D014416:Tunisia / Q000453:epidemiology; D055815:Young Adult
chemical_list: D001779:Blood Coagulation Factors; D003029:Coagulants; C025667:prothrombin complex concentrates; D005167:Factor VII