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

The proband’s von Willebrand factor (VWF) antigen and VWF collagen-binding capacity were 14% and 10%, respectively; his sister’s were 16% and 9%, respectively; and his nephew’s were 30% and 15%, respectively. No apparent loss of high-molecular weight VWF multimers was observed in the plasma of these...

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Bibliographic Details
Published in:International journal of hematology 2020-03, Vol.111 (3), p.467-470
Main Authors: Shigekiyo, Toshio, Yagi, Hikaru, Sekimoto, Etsuko, Shibata, Hironobu, Ozaki, Shuji, Matsumoto, Masanori
Format: Article
Language:English
Subjects:
ABO Blood-Group System
Antigens
Case Report
Collagen
Domains
Female
Health risk assessment
Hematology
Humans
Male
Medicine
Medicine & Public Health
Middle Aged
Missense mutation
Molecular weight
Mutation
Mutation, Missense
Nucleotides
Oncology
Pedigree
Phenotype
Protein Domains - genetics
von Willebrand Disease, Type 2 - genetics
Von Willebrand factor
von Willebrand Factor - chemistry
von Willebrand Factor - genetics
VWF gene
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Summary:The proband’s von Willebrand factor (VWF) antigen and VWF collagen-binding capacity were 14% and 10%, respectively; his sister’s were 16% and 9%, respectively; and his nephew’s were 30% and 15%, respectively. No apparent loss of high-molecular weight VWF multimers was observed in the plasma of these patients. A single-nucleotide substitution of T to C was found at nucleotide position 113042 in their VWF gene, converting Leu1733 to Pro in the A3 domain. These results suggest that p.Leu1733Pro is responsible for type 2M von Willebrand disease in this family.
ISSN:0925-5710
1865-3774
DOI:10.1007/s12185-019-02753-4