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Genotypes of European and Iranian patients with type 3 von Willebrand disease enrolled in 3WINTERS-IPS

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Genotypes of European and Iranian patients with type 3 von Willebrand disease enrolled in 3WINTERS-IPS. / Baronciani, Luciano; Peake, Ian; Schneppenheim, Reinhard; Goodeve, Anne; Ahmadinejad, Minoo; Badiee, Zahra; Baghaipour, Mohammad-Reza; Benitez, Olga; Bodó, Imre; Budde, Ulrich; Cairo, Andrea; Castaman, Giancarlo; Eshghi, Peyman; Goudemand, Jenny; Hassenpflug, Wolf; Hoorfar, Hamid; Karimi, Mehran; Keikhaei, Bijan; Lassila, Riitta; Leebeek, Frank W G; Lopez Fernandez, Maria Fernanda; Mannucci, Pier Mannuccio; Marino, Renato; Nikšić, Nikolas; Oyen, Florian; Santoro, Cristina; Tiede, Andreas; Toogeh, Gholamreza; Tosetto, Alberto; Trossaert, Marc; Zetterberg, Eva M K; Eikenboom, Jeroen; Federici, Augusto B; Peyvandi, Flora.

in: BLOOD ADV, Jahrgang 5, Nr. 15, 10.08.2021, S. 2987-3001.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Baronciani, L, Peake, I, Schneppenheim, R, Goodeve, A, Ahmadinejad, M, Badiee, Z, Baghaipour, M-R, Benitez, O, Bodó, I, Budde, U, Cairo, A, Castaman, G, Eshghi, P, Goudemand, J, Hassenpflug, W, Hoorfar, H, Karimi, M, Keikhaei, B, Lassila, R, Leebeek, FWG, Lopez Fernandez, MF, Mannucci, PM, Marino, R, Nikšić, N, Oyen, F, Santoro, C, Tiede, A, Toogeh, G, Tosetto, A, Trossaert, M, Zetterberg, EMK, Eikenboom, J, Federici, AB & Peyvandi, F 2021, 'Genotypes of European and Iranian patients with type 3 von Willebrand disease enrolled in 3WINTERS-IPS', BLOOD ADV, Jg. 5, Nr. 15, S. 2987-3001. https://doi.org/10.1182/bloodadvances.2020003397

APA

Baronciani, L., Peake, I., Schneppenheim, R., Goodeve, A., Ahmadinejad, M., Badiee, Z., Baghaipour, M-R., Benitez, O., Bodó, I., Budde, U., Cairo, A., Castaman, G., Eshghi, P., Goudemand, J., Hassenpflug, W., Hoorfar, H., Karimi, M., Keikhaei, B., Lassila, R., ... Peyvandi, F. (2021). Genotypes of European and Iranian patients with type 3 von Willebrand disease enrolled in 3WINTERS-IPS. BLOOD ADV, 5(15), 2987-3001. https://doi.org/10.1182/bloodadvances.2020003397

Vancouver

Baronciani L, Peake I, Schneppenheim R, Goodeve A, Ahmadinejad M, Badiee Z et al. Genotypes of European and Iranian patients with type 3 von Willebrand disease enrolled in 3WINTERS-IPS. BLOOD ADV. 2021 Aug 10;5(15):2987-3001. https://doi.org/10.1182/bloodadvances.2020003397

Bibtex

@article{b15b8d2ad4be448bb17deb1bdda3ad4a,
title = "Genotypes of European and Iranian patients with type 3 von Willebrand disease enrolled in 3WINTERS-IPS",
abstract = "Type 3 von Willebrand disease (VWD3) is a rare and severe bleeding disorder characterized by often undetectable von Willebrand factor (VWF) plasma levels, a recessive inheritance pattern, and heterogeneous genotype. The objective of this study was to identify the VWF defects in 265 European and Iranian patients with VWD3 enrolled in 3WINTERS-IPS (Type 3 Von Willebrand International Registries Inhibitor Prospective Study). All analyses were performed in centralized laboratories. The VWF genotype was studied in 231 patients with available DNA (121 [115 families] from Europe [EU], and 110 [91 families] from Iran [IR]). Among 206 unrelated patients, 134 were homozygous (EU/IR = 57/77) and 50 were compound heterozygous (EU/IR = 43/7) for VWF variants. In 22 patients, no or only one variant was found. A total of 154 different VWF variants (EU/IR = 101/58 [5 shared]) were identified among the 379 affected alleles (EU/IR = 210/169), of which 48 (EU/IR = 18/30) were novel. The variants p.Arg1659*, p.Arg1853*, p.Arg2535*, p.Cys275Ser, and delEx1_Ex5 were found in both European and Iranian VWD3 patients. Sixty variants were identified only in a single allele (EU/IR = 50/10), whereas 18 were recurrent (≥3 patients) within 144 affected alleles. Nine large deletions and one large insertion were found. Although most variants predicted null alleles, 21% of patients carried at least 1 missense variant. VWD3 genotype was more heterogeneous in the European population than in the Iranian population, with nearly twice as many different variants. A higher number of novel variants were found in the Iranian VWD3 patients.",
keywords = "Genotype, Humans, Iran/epidemiology, Prospective Studies, von Willebrand Disease, Type 3/diagnosis, von Willebrand Diseases",
author = "Luciano Baronciani and Ian Peake and Reinhard Schneppenheim and Anne Goodeve and Minoo Ahmadinejad and Zahra Badiee and Mohammad-Reza Baghaipour and Olga Benitez and Imre Bod{\'o} and Ulrich Budde and Andrea Cairo and Giancarlo Castaman and Peyman Eshghi and Jenny Goudemand and Wolf Hassenpflug and Hamid Hoorfar and Mehran Karimi and Bijan Keikhaei and Riitta Lassila and Leebeek, {Frank W G} and {Lopez Fernandez}, {Maria Fernanda} and Mannucci, {Pier Mannuccio} and Renato Marino and Nikolas Nik{\v s}i{\'c} and Florian Oyen and Cristina Santoro and Andreas Tiede and Gholamreza Toogeh and Alberto Tosetto and Marc Trossaert and Zetterberg, {Eva M K} and Jeroen Eikenboom and Federici, {Augusto B} and Flora Peyvandi",
note = "{\textcopyright} 2021 by The American Society of Hematology.",
year = "2021",
month = aug,
day = "10",
doi = "10.1182/bloodadvances.2020003397",
language = "English",
volume = "5",
pages = "2987--3001",
journal = "BLOOD ADV",
issn = "2473-9529",
publisher = "Elsevier BV",
number = "15",

}

RIS

TY - JOUR

T1 - Genotypes of European and Iranian patients with type 3 von Willebrand disease enrolled in 3WINTERS-IPS

AU - Baronciani, Luciano

AU - Peake, Ian

AU - Schneppenheim, Reinhard

AU - Goodeve, Anne

AU - Ahmadinejad, Minoo

AU - Badiee, Zahra

AU - Baghaipour, Mohammad-Reza

AU - Benitez, Olga

AU - Bodó, Imre

AU - Budde, Ulrich

AU - Cairo, Andrea

AU - Castaman, Giancarlo

AU - Eshghi, Peyman

AU - Goudemand, Jenny

AU - Hassenpflug, Wolf

AU - Hoorfar, Hamid

AU - Karimi, Mehran

AU - Keikhaei, Bijan

AU - Lassila, Riitta

AU - Leebeek, Frank W G

AU - Lopez Fernandez, Maria Fernanda

AU - Mannucci, Pier Mannuccio

AU - Marino, Renato

AU - Nikšić, Nikolas

AU - Oyen, Florian

AU - Santoro, Cristina

AU - Tiede, Andreas

AU - Toogeh, Gholamreza

AU - Tosetto, Alberto

AU - Trossaert, Marc

AU - Zetterberg, Eva M K

AU - Eikenboom, Jeroen

AU - Federici, Augusto B

AU - Peyvandi, Flora

N1 - © 2021 by The American Society of Hematology.

PY - 2021/8/10

Y1 - 2021/8/10

N2 - Type 3 von Willebrand disease (VWD3) is a rare and severe bleeding disorder characterized by often undetectable von Willebrand factor (VWF) plasma levels, a recessive inheritance pattern, and heterogeneous genotype. The objective of this study was to identify the VWF defects in 265 European and Iranian patients with VWD3 enrolled in 3WINTERS-IPS (Type 3 Von Willebrand International Registries Inhibitor Prospective Study). All analyses were performed in centralized laboratories. The VWF genotype was studied in 231 patients with available DNA (121 [115 families] from Europe [EU], and 110 [91 families] from Iran [IR]). Among 206 unrelated patients, 134 were homozygous (EU/IR = 57/77) and 50 were compound heterozygous (EU/IR = 43/7) for VWF variants. In 22 patients, no or only one variant was found. A total of 154 different VWF variants (EU/IR = 101/58 [5 shared]) were identified among the 379 affected alleles (EU/IR = 210/169), of which 48 (EU/IR = 18/30) were novel. The variants p.Arg1659*, p.Arg1853*, p.Arg2535*, p.Cys275Ser, and delEx1_Ex5 were found in both European and Iranian VWD3 patients. Sixty variants were identified only in a single allele (EU/IR = 50/10), whereas 18 were recurrent (≥3 patients) within 144 affected alleles. Nine large deletions and one large insertion were found. Although most variants predicted null alleles, 21% of patients carried at least 1 missense variant. VWD3 genotype was more heterogeneous in the European population than in the Iranian population, with nearly twice as many different variants. A higher number of novel variants were found in the Iranian VWD3 patients.

AB - Type 3 von Willebrand disease (VWD3) is a rare and severe bleeding disorder characterized by often undetectable von Willebrand factor (VWF) plasma levels, a recessive inheritance pattern, and heterogeneous genotype. The objective of this study was to identify the VWF defects in 265 European and Iranian patients with VWD3 enrolled in 3WINTERS-IPS (Type 3 Von Willebrand International Registries Inhibitor Prospective Study). All analyses were performed in centralized laboratories. The VWF genotype was studied in 231 patients with available DNA (121 [115 families] from Europe [EU], and 110 [91 families] from Iran [IR]). Among 206 unrelated patients, 134 were homozygous (EU/IR = 57/77) and 50 were compound heterozygous (EU/IR = 43/7) for VWF variants. In 22 patients, no or only one variant was found. A total of 154 different VWF variants (EU/IR = 101/58 [5 shared]) were identified among the 379 affected alleles (EU/IR = 210/169), of which 48 (EU/IR = 18/30) were novel. The variants p.Arg1659*, p.Arg1853*, p.Arg2535*, p.Cys275Ser, and delEx1_Ex5 were found in both European and Iranian VWD3 patients. Sixty variants were identified only in a single allele (EU/IR = 50/10), whereas 18 were recurrent (≥3 patients) within 144 affected alleles. Nine large deletions and one large insertion were found. Although most variants predicted null alleles, 21% of patients carried at least 1 missense variant. VWD3 genotype was more heterogeneous in the European population than in the Iranian population, with nearly twice as many different variants. A higher number of novel variants were found in the Iranian VWD3 patients.

KW - Genotype

KW - Humans

KW - Iran/epidemiology

KW - Prospective Studies

KW - von Willebrand Disease, Type 3/diagnosis

KW - von Willebrand Diseases

U2 - 10.1182/bloodadvances.2020003397

DO - 10.1182/bloodadvances.2020003397

M3 - SCORING: Journal article

C2 - 34351388

VL - 5

SP - 2987

EP - 3001

JO - BLOOD ADV

JF - BLOOD ADV

SN - 2473-9529

IS - 15

ER -