Targeted Next-Generation Resequencing of F5 Gene Identifies Novel Multiple Variants Pattern in Severe Hereditary Factor V Deficiency. (15th April 2013)

• Record Type: Journal Article
• Authors: Janicki, Piotr K.; Vaida, Sonia; AL-Mondhiry, Hamid A. B.
• Other Names: Chae S.-C. Academic Editor.; Cotter P. D. Academic Editor.; Sazci A. Academic Editor.; Yapijakis C. Academic Editor.
• Is Part Of: Case reports in genetics. Volume 2013(2013)
• Publication Date: 2013-04-15
• Subjects: Genetics -- Periodicals; Genetics -- Case studies -- Periodicals; Genetics; Genetic Phenomena; Genetics; Periodicals; Case studies; Periodicals; Case Reports; Fulltext; Internet Resources; Periodicals; 576.5
• DOI: 10.1155/2013/941684
• Languages: English
• ISSNs: 2090-6544

Abstract

Abstract : 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 F 5 gene locus. Five mutations in the coding sequence of F 5, 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 F 5 .