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Tytuł pozycji:

Novel splicing (c.6529-1G>T) and missense (c.1667G>A) mutations causing factor V deficiency.

Tytuł :
Novel splicing (c.6529-1G>T) and missense (c.1667G>A) mutations causing factor V deficiency.
Autorzy :
Maharaj S; Department of Hematology & Oncology, University of Louisville, Louisville, Kentucky Department of Medical Genetics, Cincinnati Children's Hospital, Cincinnati, Ohio Molecular Hematopathology Laboratory, Division of Hematopathology, Department of Laboratory Medicine and Pathology Mayo Comprehensive Hemophilia Center, Special Coagulation and Molecular Hematopathology Laboratories, Mayo Clinic, Rochester, Minnesota, USA.
Saenz Ayala S
Hu X
Chang S
Sharma V
Majerus J
Pruthi R
Pokaż więcej
Źródło :
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis [Blood Coagul Fibrinolysis] 2021 Mar 23. Date of Electronic Publication: 2021 Mar 23.
Publication Model :
Ahead of Print
Typ publikacji :
Journal Article
Język :
English
Imprint Name(s) :
Publication: London : Lippincott Williams And Wilkins
Original Publication: Oxford, UK : Rapid Communications of Oxford Ltd., c1990-
Entry Date(s) :
Date Created: 20210326 Latest Revision: 20210326
Update Code :
20210326
DOI :
10.1097/MBC.0000000000001036
PMID :
33769317
Czasopismo naukowe
Congenital factor V deficiency (FVD) is a rare bleeding disorder. In this study, we investigated the genetic basis in an African American patient with factor V activity 3%. Custom sequence capture and targeted next-generation (NGS) sequencing of the F5 gene were undertaken followed by PCR and Sanger sequencing. Two novel variants were identified. In silico analyses correlated clinically with the patient's factor V activity and hemorrhagic tendency. A review of the literature regarding these genomic alterations is presented. We described two novel mutations causing moderate FVD. The first, Chr1:g.169483698C>A with cDNA change (F5):c.6529-1G>T, occurred in a conserved nucleotide at the canonical acceptor splice site of intron 24. The second, Chr1:g.169515775C>T with cDNA change (F5):c.1667G>A, was a missense variant of exon 11, affecting a highly conserved amino acid in the A2 domain. Further research into the mechanisms of F5 mutations leading to FVD and residual factor V expression are needed.
(Copyright © Copyright © 2021 YEAR Wolters Kluwer Health, Inc. All rights reserved.)

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