Unknown

Dataset Information

0

Targeted next-generation resequencing of f5 gene identifies novel multiple variants pattern in severe hereditary factor v deficiency.

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 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.

SUBMITTER: Janicki PK 

PROVIDER: S-EPMC3639706 | biostudies-literature | 2013

REPOSITORIES: biostudies-literature

Json Xml
altmetric image

Publications

Targeted next-generation resequencing of f5 gene identifies novel multiple variants pattern in severe hereditary factor v deficiency.

Janicki Piotr K PK   Vaida Sonia S   Al-Mondhiry Hamid A B HA  

Case reports in genetics 20130415

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 investigate  ...[more]

Similar Datasets

Unknown Ultrasensitive detection of rare mutations using next-generation targeted resequencing.
| S-EPMC3245950 | biostudies-literature
Unknown Targeted Next-Generation Sequencing Identifies a Recurrent Mutation in MCPH1 Associating with Hereditary Breast Cancer Susceptibility.
| S-EPMC4731077 | biostudies-literature
Unknown Targeted next-generation sequencing analysis identifies novel mutations in families with severe familial exudative vitreoretinopathy.
| S-EPMC5568910 | biostudies-literature
Unknown Genetic Characterization of Hereditary Cancer Syndromes Based on Targeted Next-Generation Sequencing.
| S-EPMC8928213 | biostudies-literature
Unknown RVD: a command-line program for ultrasensitive rare single nucleotide variant detection using targeted next-generation DNA resequencing.
| S-EPMC3695852 | biostudies-other
Unknown Targeted next-generation sequencing identifies a novel nonsense mutation in SPTB for hereditary spherocytosis: A case report of a Korean family.
| S-EPMC5779785 | biostudies-literature
Unknown Targeted next-generation sequencing identified novel mutations associated with hereditary anemias in Brazil.
| S-EPMC7241966 | biostudies-literature
Unknown Targeted next generation sequencing identifies clinically actionable mutations in patients with melanoma.
| S-EPMC4121659 | biostudies-literature
Unknown Targeted Next Generation Sequencing Identifies Markers of Response to PD-1 Blockade.
| S-EPMC5134329 | biostudies-literature
Unknown Targeted next generation sequencing identifies novel NOTCH3 gene mutations in CADASIL diagnostics patients.
| S-EPMC5122195 | biostudies-literature