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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
Identification of the first alu-mediated large deletion involving the f5 gene in a compound heterozygous patient with severe factor v deficiency
Thrombosis and Haemostasis, Volume 106, No. 2, Year 2011
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Description
Factor V (FV) deficiency is a rare autosomal recessive haemorrhagic disorder associated with moderate to severe bleeding symptoms. Conventional mutational screening leads to a complete molecular genetic diagnosis only in about 80-90% of cases. Large gene rearrangements, which could explain at least part of the "missing alleles" have not been reported so far in FV-deficient patients. In this work, we investigated a family with hereditary FV deficiency, in which the proband is compound heterozygous for a 205-Kb deletion, involving the first seven exons of F5, and the entire selectin P, L, and E genes, and for a novel splicing mutation (IVS12+5G>A). The deletion breakpoints, determined by using a combination of semi-quantitative real-time PCR and long PCR assays, occurred within AluY repeat sequences, suggesting an Alu-mediated unequal homologous recombination as the mechanism responsible for the deletion. The in vitro characterisation of the IVS12+5G>A mutation demonstrated that this mutation causes the skipping of exon 12 and the activation of a cryptic splice site. Low levels of residual wild-type splicing were also detectable, in agreement with the notion that the complete absence of FV may be not compatible with life. © Schattauer 2011.
Authors & Co-Authors
Guella, Ilaria
Italy, Milan
Università Degli Studi Di Milano
Paraboschi, Elvezia Maria
Italy, Milan
Università Degli Studi Di Milano
van Schalkwyk, Willem A.
South Africa, Johannesburg
National Health Laboratory Service
Asselta, Rosanna
Italy, Milan
Università Degli Studi Di Milano
Duga, Stefano
Italy, Milan
Università Degli Studi Di Milano
Statistics
Citations: 10
Authors: 5
Affiliations: 2
Identifiers
Doi:
10.1160/TH11-03-0149
ISSN:
03406245
Research Areas
Cancer
Genetics And Genomics
Health System And Policy
Study Approach
Quantitative