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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
Molecular study of the perforin gene in familial hematological malignancies
Hereditary Cancer in Clinical Practice, Volume 9, No. 1, Article 9, Year 2011
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Description
Perforin gene (PRF1) mutations have been identified in some patients diagnosed with the familial form of hemophagocytic lymphohistiocytosis (HLH) and in patients with lymphoma. The aim of the present study was to determine whether patients with a familial aggregation of hematological malignancies harbor germline perforin gene mutations. For this purpose, 81 unrelated families from Tunisia and France with aggregated hematological malignancies were investigated. The variants detected in the PRF1 coding region amounted to 3.7% (3/81). Two of the three variants identified were previously described: the p.Ala91Val pathogenic mutation and the p.Asn252Ser polymorphism. A new p.Ala 211Val missense substitution was identified in two related Tunisian patients. In order to assess the pathogenicity of this new variation, bioinformatic tools were used to predict its effects on the perforin protein structure and at the mRNA level. The segregation of the mutant allele was studied in the family of interest and a control population was screened. The fact that this variant was not found to occur in 200 control chromosomes suggests that it may be pathogenic. However, overexpression of mutated PRF1 in rat basophilic leukemia cells did not affect the lytic function of perforin differently from the wild type protein. © 2011 El Abed et al; licensee BioMed Central Ltd.
Authors & Co-Authors
El Abed, Rim
Tunisia, Sousse
Faculty of Medicine Sousse
Bourdon, Violaine
France, Marseille
Institut Paoli-calmettes
Voskoboinik, Ilia
Australia, Melbourne
Peter Maccallum Cancer Centre
El-Omri, Halima
Tunisia, Sousse
Hopital Farhat Hached Sousse
Youssef, Y. B.
Tunisia, Sousse
Faculty of Medicine Sousse
Tunisia, Sousse
Hopital Farhat Hached Sousse
Laatiri, Mohamed Adnéne
Tunisia, Sousse
Hopital Farhat Hached Sousse
Huiart, L.
France, Marseille
Institut Paoli-calmettes
Eisinger, François A.
France, Marseille
Institut Paoli-calmettes
Rabayrol, Laetitia
France, Marseille
Institut Paoli-calmettes
Frénay, Marc Paul
France, Nice
Centre Antoine Lacassagne
Gesta, Paul H.
France, Niort
Chg Niort
Demange, L.
France, Reims
Polyclinique de Courlancy
Dreyfus, Hélène
France, Avignon
Institut Ste Catherine
Bonadona, Valérie
France, Lyon
Le Centre Régional de Lutte Contre le Cancer Léon Bérard
Dugast, Catherine
France, Rennes
Centre Eugène Marquis Rennes
Zattara-Cannoni, Hélène
France, Marseille
Hopital la Timone
Faivre, Laurence
France, Dijon
Hôpital D'enfants Chu Dijon
France, Dijon
Centre Georges-françois Leclerc
Zaïer, Monia
Tunisia, Sousse
Faculty of Medicine Sousse
Tunisia, Sousse
Hopital Farhat Hached Sousse
Jemni, Saloua Yacoub
Tunisia, Sousse
Hopital Farhat Hached Sousse
Noguchi, Testsuro
France, Marseille
Institut Paoli-calmettes
Sobol, Hagay H.
France, Marseille
Institut Paoli-calmettes
France, Marseille
Aix Marseille Université
Soua, Zohra
Tunisia, Sousse
Faculty of Medicine Sousse
Statistics
Citations: 61
Authors: 22
Affiliations: 14
Identifiers
Doi:
10.1186/1897-4287-9-9
ISSN:
17312302
e-ISSN:
18974287
Research Areas
Cancer
Genetics And Genomics
Study Design
Cross Sectional Study
Study Locations
Tunisia