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

Elmahmoudi H, Ben-Lakhal F, Elborji W, Jlizi A, Zahra K, Sassi R, Zorgan M, Meddeb B, Elgaaied Ben Ammar A, Gouider E - Diagn Pathol (2012)

Bottom Line: 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.

View Article: PubMed Central - HTML - PubMed

Affiliation: Laboratory of Genetics, Immunology and Human Pathologies, Tunis, Tunisia. hejer.abdalah@gmail.com

ABSTRACT

Unlabelled: 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.

Virtual slides: The virtual slide(s) for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/1288044089753085.

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Localization of identified mutations in 5 unrelated Tunisian patients with FVII deficiency. The 3 punctual mutations are localized in the catalytic region within exon 8. The 2 splice mutations are localized in intron 1 and in the exon 2. Nucleotide numbers are based on the full sequence published by O’hara et al 1987 using the A of the ATG initiator methionine as +1. Numbering of the amino acids is based on Genebank file NM-000131. Methionine is numbered as −60.
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Figure 1: Localization of identified mutations in 5 unrelated Tunisian patients with FVII deficiency. The 3 punctual mutations are localized in the catalytic region within exon 8. The 2 splice mutations are localized in intron 1 and in the exon 2. Nucleotide numbers are based on the full sequence published by O’hara et al 1987 using the A of the ATG initiator methionine as +1. Numbering of the amino acids is based on Genebank file NM-000131. Methionine is numbered as −60.

Mentions: The 3 missense mutations were detected within the F7 gene (Figure1) in exon 8; a novel heterozygous mutation p.F328Y (TTC → TAC) in patient 1, a reported heterozygous p.M298I (ATG → ATA) in patient 2 and a reported homozygous G > A transition leading to p.R304Q substitution (CGG → CAG) in patient 3 (Table1).


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

Elmahmoudi H, Ben-Lakhal F, Elborji W, Jlizi A, Zahra K, Sassi R, Zorgan M, Meddeb B, Elgaaied Ben Ammar A, Gouider E - Diagn Pathol (2012)

Localization of identified mutations in 5 unrelated Tunisian patients with FVII deficiency. The 3 punctual mutations are localized in the catalytic region within exon 8. The 2 splice mutations are localized in intron 1 and in the exon 2. Nucleotide numbers are based on the full sequence published by O’hara et al 1987 using the A of the ATG initiator methionine as +1. Numbering of the amino acids is based on Genebank file NM-000131. Methionine is numbered as −60.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC3526404&req=5

Figure 1: Localization of identified mutations in 5 unrelated Tunisian patients with FVII deficiency. The 3 punctual mutations are localized in the catalytic region within exon 8. The 2 splice mutations are localized in intron 1 and in the exon 2. Nucleotide numbers are based on the full sequence published by O’hara et al 1987 using the A of the ATG initiator methionine as +1. Numbering of the amino acids is based on Genebank file NM-000131. Methionine is numbered as −60.
Mentions: The 3 missense mutations were detected within the F7 gene (Figure1) in exon 8; a novel heterozygous mutation p.F328Y (TTC → TAC) in patient 1, a reported heterozygous p.M298I (ATG → ATA) in patient 2 and a reported homozygous G > A transition leading to p.R304Q substitution (CGG → CAG) in patient 3 (Table1).

Bottom Line: 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.

View Article: PubMed Central - HTML - PubMed

Affiliation: Laboratory of Genetics, Immunology and Human Pathologies, Tunis, Tunisia. hejer.abdalah@gmail.com

ABSTRACT

Unlabelled: 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.

Virtual slides: The virtual slide(s) for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/1288044089753085.

Show MeSH
Related in: MedlinePlus