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Open Access Research

Identification of genetic defects underlying FVII deficiency in 10 patients belonging to eight unrelated families of the North provinces from Tunisia

Hejer Elmahmoudi1*, Fatma Ben-lakhal2, Wijden Elborji2, Asma Jlizi1, Kaouther Zahra2, Rim Sassi1, Moez Zorgan2, Balkis Meddeb2, Amel Elgaaied Ben Ammar1 and Emna Gouider2

Author Affiliations

1 Laboratory of Genetics, Immunology and Human Pathologies, Tunis, Tunisia

2 Hemophilia Treatment Center, Aziza Othmana Hospital, Tunis, Tunisia

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Diagnostic Pathology 2012, 7:92  doi:10.1186/1746-1596-7-92

Published: 8 August 2012

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.

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Keywords:
FVII deficiency; F7 gene; Mutations; Polymorphisms; Tunisia