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Von Willebrand Disease type 2M "Vicenza" in Italian and German patients

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Von Willebrand Disease type 2M "Vicenza" in Italian and German patients : identification of the first candidate mutation (G3864A; R1205H) in 8 families. / Schneppenheim, R; Federici, A B; Budde, U; Castaman, G; Drewke, E; Krey, S; Mannucci, P M; Riesen, G; Rodeghiero, F; Zieger, B; Zimmermann, R.

In: THROMB HAEMOSTASIS, Vol. 83, No. 1, 01.01.2000, p. 136-40.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Schneppenheim, R, Federici, AB, Budde, U, Castaman, G, Drewke, E, Krey, S, Mannucci, PM, Riesen, G, Rodeghiero, F, Zieger, B & Zimmermann, R 2000, 'Von Willebrand Disease type 2M "Vicenza" in Italian and German patients: identification of the first candidate mutation (G3864A; R1205H) in 8 families', THROMB HAEMOSTASIS, vol. 83, no. 1, pp. 136-40.

APA

Schneppenheim, R., Federici, A. B., Budde, U., Castaman, G., Drewke, E., Krey, S., Mannucci, P. M., Riesen, G., Rodeghiero, F., Zieger, B., & Zimmermann, R. (2000). Von Willebrand Disease type 2M "Vicenza" in Italian and German patients: identification of the first candidate mutation (G3864A; R1205H) in 8 families. THROMB HAEMOSTASIS, 83(1), 136-40.

Vancouver

Schneppenheim R, Federici AB, Budde U, Castaman G, Drewke E, Krey S et al. Von Willebrand Disease type 2M "Vicenza" in Italian and German patients: identification of the first candidate mutation (G3864A; R1205H) in 8 families. THROMB HAEMOSTASIS. 2000 Jan 1;83(1):136-40.

Bibtex

@article{932fb4e8ccef4418bc2c817e32ace93a,
title = "Von Willebrand Disease type 2M {"}Vicenza{"} in Italian and German patients: identification of the first candidate mutation (G3864A; R1205H) in 8 families",
abstract = "Von Willebrand disease type 2M {"}Vicenza{"} (VWD 2M V) is characterised by autosomal dominant inheritance, low von Willebrand factor (VWF) and the presence of {"}supranormal{"} multimers in plasma. This specific phenotype has been described in Italian and recently also in German patients. The molecular defect is linked to the VWF gene. However, no specific mutations have been identified until now. We analysed the complete coding region and adjacent intron sequences of the VWF gene in Italian families in comparison to German families with VWD 2M V by a PCR-based mutation screening, combined with SSC- and heteroduplex-analysis of exons 2 through 52, followed by direct sequencing. We identified the first heterozygous candidate mutation (G3864A; R1205H) in all affected members of the 7 Italian families and in 1 German patient but not in the unaffected family members nor on 100 chromosomes of normal subjects, suggesting a causal relationship between the mutation and the phenotype. Haplotype identity, with minor deviations in one Italian family, suggests a common but not very recent genetic origin of R1205H.",
keywords = "Female, Germany, Humans, Italy, Male, Mutation, Pedigree, von Willebrand Diseases, von Willebrand Factor",
author = "R Schneppenheim and Federici, {A B} and U Budde and G Castaman and E Drewke and S Krey and Mannucci, {P M} and G Riesen and F Rodeghiero and B Zieger and R Zimmermann",
year = "2000",
month = jan,
day = "1",
language = "English",
volume = "83",
pages = "136--40",
journal = "THROMB HAEMOSTASIS",
issn = "0340-6245",
publisher = "Schattauer",
number = "1",

}

RIS

TY - JOUR

T1 - Von Willebrand Disease type 2M "Vicenza" in Italian and German patients

T2 - identification of the first candidate mutation (G3864A; R1205H) in 8 families

AU - Schneppenheim, R

AU - Federici, A B

AU - Budde, U

AU - Castaman, G

AU - Drewke, E

AU - Krey, S

AU - Mannucci, P M

AU - Riesen, G

AU - Rodeghiero, F

AU - Zieger, B

AU - Zimmermann, R

PY - 2000/1/1

Y1 - 2000/1/1

N2 - Von Willebrand disease type 2M "Vicenza" (VWD 2M V) is characterised by autosomal dominant inheritance, low von Willebrand factor (VWF) and the presence of "supranormal" multimers in plasma. This specific phenotype has been described in Italian and recently also in German patients. The molecular defect is linked to the VWF gene. However, no specific mutations have been identified until now. We analysed the complete coding region and adjacent intron sequences of the VWF gene in Italian families in comparison to German families with VWD 2M V by a PCR-based mutation screening, combined with SSC- and heteroduplex-analysis of exons 2 through 52, followed by direct sequencing. We identified the first heterozygous candidate mutation (G3864A; R1205H) in all affected members of the 7 Italian families and in 1 German patient but not in the unaffected family members nor on 100 chromosomes of normal subjects, suggesting a causal relationship between the mutation and the phenotype. Haplotype identity, with minor deviations in one Italian family, suggests a common but not very recent genetic origin of R1205H.

AB - Von Willebrand disease type 2M "Vicenza" (VWD 2M V) is characterised by autosomal dominant inheritance, low von Willebrand factor (VWF) and the presence of "supranormal" multimers in plasma. This specific phenotype has been described in Italian and recently also in German patients. The molecular defect is linked to the VWF gene. However, no specific mutations have been identified until now. We analysed the complete coding region and adjacent intron sequences of the VWF gene in Italian families in comparison to German families with VWD 2M V by a PCR-based mutation screening, combined with SSC- and heteroduplex-analysis of exons 2 through 52, followed by direct sequencing. We identified the first heterozygous candidate mutation (G3864A; R1205H) in all affected members of the 7 Italian families and in 1 German patient but not in the unaffected family members nor on 100 chromosomes of normal subjects, suggesting a causal relationship between the mutation and the phenotype. Haplotype identity, with minor deviations in one Italian family, suggests a common but not very recent genetic origin of R1205H.

KW - Female

KW - Germany

KW - Humans

KW - Italy

KW - Male

KW - Mutation

KW - Pedigree

KW - von Willebrand Diseases

KW - von Willebrand Factor

M3 - SCORING: Journal article

C2 - 10669167

VL - 83

SP - 136

EP - 140

JO - THROMB HAEMOSTASIS

JF - THROMB HAEMOSTASIS

SN - 0340-6245

IS - 1

ER -