scholarly journals Autosomal recessive von Willebrand disease associated with compound heterozygosity for a novel nonsense mutation (2908 del C) and the missense mutation C2362F: Definite evidence for the non-penetrance of the C2362F mutation

2007 ◽  
Vol 82 (5) ◽  
pp. 376-380 ◽  
Author(s):  
G. Castaman ◽  
K. Bertoncello ◽  
M. Bernardi ◽  
J.C.J. Eikenboom ◽  
U. Budde ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Nonsense Mutation ◽  
Autosomal Recessive ◽  
Von Willebrand Disease ◽  
Compound Heterozygosity ◽  
Definite Evidence ◽  
Von Willebrand

A Novel Mutation Glyl672→Arg in Type 2A and a Homozygous Mutation in Type 2B von Willebrand Disease

1996 ◽  
Vol 76 (02) ◽  
pp. 253-257 ◽  
Author(s):  
Takeshi Hagiwara ◽  
Hiroshi Inaba ◽  
Shinichi Yoshida ◽  
Keiko Nagaizumi ◽  
Morio Arai ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Novel Mutation ◽  
Point Mutations ◽  
Japanese Patients ◽  
Von Willebrand Disease ◽  
Homozygous Mutation ◽  
Missense Mutations ◽  
Reaction Products ◽  
Type 3 ◽  
Von Willebrand

SummaryGenetic materials from 16 unrelated Japanese patients with von Willebrand disease (vWD) were analyzed for mutations. Exon 28 of the von Willebrand factor (vWF) gene, where point mutations have been found most frequent, was screened by various restriction-enzyme analyses. Six patients were observed to have abnormal restriction patterns. By sequence analyses of the polymerase chain-reaction products, we identified a homozygous R1308C missense mutation in a patient with type 2B vWD; R1597W, R1597Q, G1609R and G1672R missense mutations in five patients with type 2A; and a G1659ter nonsense mutation in a patient with type 3 vWD. The G1672R was a novel missense mutation of the carboxyl-terminal end of the A2 domain. In addition, we detected an A/C polymorphism at nucleotide 4915 with HaeIII. There was no particular linkage disequilibrium of the A/C polymorphism, either with the G/A polymorphism at nucleotide 4391 detected with Hphl or with the C/T at 4891 detected with BstEll.

Identification of a missense mutation (p.Leu1733Pro) in the A3 domain of von Willebrand factor in a family with type 2M von Willebrand disease

2019 ◽  
Vol 111 (3) ◽  
pp. 467-470
Author(s):  
Toshio Shigekiyo ◽  
Hikaru Yagi ◽  
Etsuko Sekimoto ◽  
Hironobu Shibata ◽  
Shuji Ozaki ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Von Willebrand Factor ◽  
Von Willebrand Disease ◽  
Von Willebrand ◽  
Willebrand Factor

BERNARD SOULIER SYNDROME IN PREGNANCY

2021 ◽  
pp. 17-19
Author(s):  
Malini Sukayogula ◽  
Manisha Pradhan ◽  
Tarakeswari Surapaneni
Keyword(s):  
Autosomal Recessive ◽  
Postpartum Haemorrhage ◽  
Von Willebrand Disease ◽  
Factor Vii ◽  
Thrombocytopenic Purpura ◽  
Giant Platelet ◽  
Platelet Disorder ◽  
Von Willebrand ◽  
Bernard Soulier Syndrome ◽  
Autosomal Recessive Pattern

Bernard-Soulier syndrome is an inherited platelet disorder, transmitted in an autosomal recessive pattern. Thrombocytopenia and large defective platelets are characteristics, often presents early with bleeding symptoms, such as epistaxis, ecchymosis, menometrorrhagia, and gingival or gastrointestinal bleeding. Diagnosis can be conrmed by platelet aggregation studies and ow cytometry. Differential diagnosis includes other inherited giant platelet disorders, as well as von Willebrand disease and immune thrombocytopenic purpura. During pregnancy, it can present as recurrent rst trimester miscarriages, antepartum, intrapartum and postpartum haemorrhage. Treatment remains generally supportive with platelet transfusions and recombinant factor VII has also been described in literature.

Identification of a New Type 2M von Willebrand Disease Mutation also at Position 1324 of von Willebrand Factor

2002 ◽  
Vol 87 (04) ◽  
pp. 635-640 ◽  
Author(s):  
E. Fressinaud ◽  
A. S. Ribba ◽  
D. Meyer ◽  
C. Mazurier ◽  
L. Hilbert ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Von Willebrand Factor ◽  
Stop Codon ◽  
Von Willebrand Disease ◽  
Platelet Glycoprotein ◽  
Patient Reported ◽  
French Family ◽  
New Type ◽  
Von Willebrand ◽  
Willebrand Factor

SummaryType 2M von Willebrand disease (VWD) refers to variants with decreased platelet-dependent function that is not associated with the loss of high molecular weight (HMW) von Willebrand factor (VWF) multimers. This category includes the so-called “phenotype B” responsible for inexistent ristocetin-induced but normal botrocetin-induced binding of VWF to platelet glycoprotein Ib. The missense mutation G1324S was identified in the first patient reported to display “phenotype B”.We report here on the identification in four members of a French family of a missense mutation also affecting this glycine residue but changing it into an alanine residue. These individuals are heterozygous for this mutation and two of them display an additional quantitative VWF deficiency resulting from a stop codon at position 2470. After transient transfection in Cos-7 cells, the mutated recombinant protein harbouring the G1324A substitution was shown to exhibit normal multimers and inexistent ristocetin-induced but normal botrocetininduced binding to GPIb, confirming the classification of this new mutation as a type 2M VWD mutation.

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