Gene conversions are a common cause of von Willebrand disease.
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Gene conversions are a common cause of von Willebrand disease. / Gupta, P K; Adamtziki, E; Budde, U; Jaiprakash, M; Kumar, H; Harbeck-Seu, A; Kannan, M; Oyen, Florian; Obser, Tobias; Wedekind, I; Saxena, R; Schneppenheim, R.
in: BRIT J HAEMATOL, Jahrgang 130, Nr. 5, 5, 2005, S. 752-758.Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung
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TY - JOUR
T1 - Gene conversions are a common cause of von Willebrand disease.
AU - Gupta, P K
AU - Adamtziki, E
AU - Budde, U
AU - Jaiprakash, M
AU - Kumar, H
AU - Harbeck-Seu, A
AU - Kannan, M
AU - Oyen, Florian
AU - Obser, Tobias
AU - Wedekind, I
AU - Saxena, R
AU - Schneppenheim, R
PY - 2005
Y1 - 2005
N2 - von Willebrand disease (VWD), the most common inherited bleeding disorder, is very heterogeneous, both in its phenotype and genotype. One particular molecular mechanism of VWD is due to recombination events between the true gene and its pseudogene on chromosome 22. We assessed the frequency and extension of such events in 50 multi-ethnic index patients with severe VWD type 3 and in five index patients with VWD type 2M Vicenza. One additional unclassified patient had been diagnosed with possible VWD in Russia solely on a clinical basis. Gene conversions, previously thought to be rare events, were identified in >10% of our study population: in six multi-ethnic patients with severe VWD type 3, in one patient with VWD type 2M Vicenza and the Russian patient was finally diagnosed with VWD type 2B New York/Malmoe. Our results suggest a significant contribution of this particular molecular mechanism to the manifestation of VWD. The location of the gene conversions, their extension and their occurrence as homozygous, compound heterozygous or heterozygous mutations determines the resulting phenotype.
AB - von Willebrand disease (VWD), the most common inherited bleeding disorder, is very heterogeneous, both in its phenotype and genotype. One particular molecular mechanism of VWD is due to recombination events between the true gene and its pseudogene on chromosome 22. We assessed the frequency and extension of such events in 50 multi-ethnic index patients with severe VWD type 3 and in five index patients with VWD type 2M Vicenza. One additional unclassified patient had been diagnosed with possible VWD in Russia solely on a clinical basis. Gene conversions, previously thought to be rare events, were identified in >10% of our study population: in six multi-ethnic patients with severe VWD type 3, in one patient with VWD type 2M Vicenza and the Russian patient was finally diagnosed with VWD type 2B New York/Malmoe. Our results suggest a significant contribution of this particular molecular mechanism to the manifestation of VWD. The location of the gene conversions, their extension and their occurrence as homozygous, compound heterozygous or heterozygous mutations determines the resulting phenotype.
M3 - SCORING: Zeitschriftenaufsatz
VL - 130
SP - 752
EP - 758
JO - BRIT J HAEMATOL
JF - BRIT J HAEMATOL
SN - 0007-1048
IS - 5
M1 - 5
ER -