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Targeted Next-Generation Resequencing of F5 Gene Identifies Novel Multiple Variants Pattern in Severe Hereditary Factor V Deficiency
Joint Authors
Vaida, Sonia
Janicki, Piotr K.
al-Mondhiry, Hamid A. B.
Source
Issue
Vol. 2013, Issue 2013 (31 Dec. 2013), pp.1-7, 7 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2013-04-15
Country of Publication
Egypt
No. of Pages
7
Main Subjects
Abstract EN
The present study investigated the genetic defects underlying severe Factor V deficiency in a 26-year-old Columbian (South America) female and her immediate family (both parents and newborn child) by next generation sequencing (NGS) of the entire F5 gene locus.
Five mutations in the coding sequence of F5, including three missense single-nucleotide variants (R2102H, R513K, D107H) and two synonymous variants (A135A , S184S), were identified and confirmed by the Sanger sequencing in the investigated proband (homozygote for all detected mutations), her parents, and her newborn child (all heterozygotic carriers for identified mutations).
Each of the three missense variants was previously associated with separate phenotypes, including Factor V deficiency (R2102H), thrombosis (R513K) and frequent miscarriages (D107H).
In addition, at least 75 additional single-nucleotide variants (including six novels) were identified in untranslated region of F5.
American Psychological Association (APA)
Janicki, Piotr K.& Vaida, Sonia& al-Mondhiry, Hamid A. B.. 2013. Targeted Next-Generation Resequencing of F5 Gene Identifies Novel Multiple Variants Pattern in Severe Hereditary Factor V Deficiency. Case Reports in Genetics،Vol. 2013, no. 2013, pp.1-7.
https://search.emarefa.net/detail/BIM-510036
Modern Language Association (MLA)
Janicki, Piotr K.…[et al.]. Targeted Next-Generation Resequencing of F5 Gene Identifies Novel Multiple Variants Pattern in Severe Hereditary Factor V Deficiency. Case Reports in Genetics No. 2013 (2013), pp.1-7.
https://search.emarefa.net/detail/BIM-510036
American Medical Association (AMA)
Janicki, Piotr K.& Vaida, Sonia& al-Mondhiry, Hamid A. B.. Targeted Next-Generation Resequencing of F5 Gene Identifies Novel Multiple Variants Pattern in Severe Hereditary Factor V Deficiency. Case Reports in Genetics. 2013. Vol. 2013, no. 2013, pp.1-7.
https://search.emarefa.net/detail/BIM-510036
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-510036