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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
Three new BLM gene mutations associated with Bloom syndrome
Genetic Testing, Volume 12, No. 2, Year 2008
Notification
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Description
Bloom's syndrome (BS) is a rare autosomal recessive disease predisposing patients to all types of cancers affecting the general population. BS cells display a high level of genetic instability, including a 10-fold increase in the rate of sister chromatid exchanges, currently the only objective criterion for BS diagnosis. We have developed a method for screening the BLM gene for mutations based on direct genomic DNA sequencing. A questionnaire based on clinical information, cytogenetic features, and family history was addressed to physicians prescribing BS genetic screening, with the aim of confirming or guiding diagnosis. We report here four BLM gene mutations, three of which have not been described before. Three of the mutations are frameshift mutations, and the fourth is a nonsense mutation. All these mutations introduce a stop codon, and may therefore be considered to have deleterious biological effect. This approach should make it possible to identify new mutations and to correlate them with clinical information. © Copyright, Mary Ann Liebert, Inc. 2008.
Authors & Co-Authors
Amor-Guéret, Mounira
France, Paris
Institut Curie
France, Paris
Cnrs Centre National de la Recherche Scientifique
Dubois-D'Enghien, Catherine
France, Paris
Institut Curie
Laugé, Anthony
France, Paris
Institut Curie
Onclercq-Delic, Rosine
France, Paris
Institut Curie
France, Paris
Cnrs Centre National de la Recherche Scientifique
Barakat, Abdelhamid
Morocco, Casablanca
Institut Pasteur du Maroc
Chadli, Elbekkay
Morocco, Casablanca
Institut Pasteur du Maroc
Bousfiha, Ahmed Aziz
Morocco, Casablanca
Centre Hospitalier Universitaire Ibn Rochd
Benjelloun, Meriem
Morocco, Casablanca
Centre Hospitalier Universitaire Ibn Rochd
Flori, Elisabeth
France, Strasbourg
Hopital de Hautepierre
Doray, Bérénice
France, Strasbourg
Hopital de Hautepierre
Laugel, Vincent
France, Strasbourg
Hopital de Hautepierre
Lourenço, Maria Teresa
Portugal, Lisbon
Hospital de Dona Estefânia
Gonçalves, Rui
Portugal, Lisbon
Hospital de Dona Estefânia
Sousa, Silvia Ferreira De
Portugal, Lisbon
Centro Hospitalar de Lisboa Ocidental Hospital de Egas Moniz
Couturier, Jérôme
France, Paris
Institut Curie
France, Paris
Inserm
Stoppa-Lyonnet, Dominique
France, Paris
Institut Curie
France, Paris
Inserm
Statistics
Citations: 24
Authors: 16
Affiliations: 8
Identifiers
Doi:
10.1089/gte.2007.0119
ISSN:
10906576
Research Areas
Cancer
Genetics And Genomics
Study Design
Cross Sectional Study