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- W1994060183 abstract "SummaryBackground:We studied 24 Hungarian patients from 23 unrelated families to identify the genetic background of the entire type 3 von Willebrand disease (VWD) population in this country. The current report focuses on the molecular characterization of a novel large deletion.Results:A large partial deletion (delExon1–3) of the 5′‐region of the von Willebrand factor gene (VWF) was detected in 12/48 alleles (25% of all type 3 alleles). The 5′‐deletion breakpoint is located in the untranslated region betweenVWF andCD9, whereas the 3′ breakpoint is in intron 3 ofVWF. Analysis of the breakpoints showed Alu Y and Alu SP repetitive sequences at the ends of the deletion, suggesting that a recombination event caused the subsequent loss of the 35‐kb fragment. DelExon1–3 was not found in any of the other screened populations.Conclusion:We report a large novel deletion including exons 1, 2 and 3 ofVWF commonly causing type 3 VWD in the Hungarian population. This mutation, probably caused by an Alu‐mediated recombination event, and subsequently distributed in Hungary by a founder effect, seems to be unique to Hungarian patients with a high allele frequency. Together, delExon1–3 and 2435delC make up 37.5% of the genetic defects in Hungarian patients with VWD type 3. This offers a rational approach to molecular testing of relevant families in Hungary. Background:We studied 24 Hungarian patients from 23 unrelated families to identify the genetic background of the entire type 3 von Willebrand disease (VWD) population in this country. The current report focuses on the molecular characterization of a novel large deletion.Results:A large partial deletion (delExon1–3) of the 5′‐region of the von Willebrand factor gene (VWF) was detected in 12/48 alleles (25% of all type 3 alleles). The 5′‐deletion breakpoint is located in the untranslated region betweenVWF andCD9, whereas the 3′ breakpoint is in intron 3 ofVWF. Analysis of the breakpoints showed Alu Y and Alu SP repetitive sequences at the ends of the deletion, suggesting that a recombination event caused the subsequent loss of the 35‐kb fragment. DelExon1–3 was not found in any of the other screened populations.Conclusion:We report a large novel deletion including exons 1, 2 and 3 ofVWF commonly causing type 3 VWD in the Hungarian population. This mutation, probably caused by an Alu‐mediated recombination event, and subsequently distributed in Hungary by a founder effect, seems to be unique to Hungarian patients with a high allele frequency. Together, delExon1–3 and 2435delC make up 37.5% of the genetic defects in Hungarian patients with VWD type 3. This offers a rational approach to molecular testing of relevant families in Hungary." @default.
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- W1994060183 date "2008-10-01" @default.
- W1994060183 modified "2023-10-15" @default.
- W1994060183 title "An Alu‐mediated novel large deletion is the most frequent cause of type 3 von Willebrand disease in Hungary" @default.
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- W1994060183 doi "https://doi.org/10.1111/j.1538-7836.2008.03107.x" @default.
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