Targeted Next-Generation Resequencing of Gene Identifies Novel Multiple Variants Pattern in Severe Hereditary Factor V Deficiency
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 gene locus. Five mutations in the coding se...
Saved in:
| Main Authors: | , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wiley
2013-01-01
|
| Series: | Case Reports in Genetics |
| Online Access: | http://dx.doi.org/10.1155/2013/941684 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1832565473664827392 |
|---|---|
| author | Piotr K. Janicki Sonia Vaida Hamid A. B. AL-Mondhiry |
| author_facet | Piotr K. Janicki Sonia Vaida Hamid A. B. AL-Mondhiry |
| author_sort | Piotr K. Janicki |
| collection | DOAJ |
| description | 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
gene locus. Five mutations in the coding sequence of , 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 . |
| format | Article |
| id | doaj-art-cd1b8753c3544b3996ffe9db88b3efba |
| institution | Kabale University |
| issn | 2090-6544 2090-6552 |
| language | English |
| publishDate | 2013-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Genetics |
| spelling | doaj-art-cd1b8753c3544b3996ffe9db88b3efba2025-02-03T01:07:32ZengWileyCase Reports in Genetics2090-65442090-65522013-01-01201310.1155/2013/941684941684Targeted Next-Generation Resequencing of Gene Identifies Novel Multiple Variants Pattern in Severe Hereditary Factor V DeficiencyPiotr K. Janicki0Sonia Vaida1Hamid A. B. AL-Mondhiry2Laboratory of Perioperative Genomics, Department of Anesthesiology, Penn State University College of Medicine, MS Hershey Medical Center, H187, 500 University Dr, Hershey, PA 17033, USALaboratory of Perioperative Genomics, Department of Anesthesiology, Penn State University College of Medicine, MS Hershey Medical Center, H187, 500 University Dr, Hershey, PA 17033, USADivision of Hematology-Oncology, Penn State University College of Medicine, MS Hershey Medical Center, Hershey, PA 17033, USAThe 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 gene locus. Five mutations in the coding sequence of , 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 .http://dx.doi.org/10.1155/2013/941684 |
| spellingShingle | Piotr K. Janicki Sonia Vaida Hamid A. B. AL-Mondhiry Targeted Next-Generation Resequencing of Gene Identifies Novel Multiple Variants Pattern in Severe Hereditary Factor V Deficiency Case Reports in Genetics |
| title | Targeted Next-Generation Resequencing of Gene Identifies Novel Multiple Variants Pattern in Severe Hereditary Factor V Deficiency |
| title_full | Targeted Next-Generation Resequencing of Gene Identifies Novel Multiple Variants Pattern in Severe Hereditary Factor V Deficiency |
| title_fullStr | Targeted Next-Generation Resequencing of Gene Identifies Novel Multiple Variants Pattern in Severe Hereditary Factor V Deficiency |
| title_full_unstemmed | Targeted Next-Generation Resequencing of Gene Identifies Novel Multiple Variants Pattern in Severe Hereditary Factor V Deficiency |
| title_short | Targeted Next-Generation Resequencing of Gene Identifies Novel Multiple Variants Pattern in Severe Hereditary Factor V Deficiency |
| title_sort | targeted next generation resequencing of gene identifies novel multiple variants pattern in severe hereditary factor v deficiency |
| url | http://dx.doi.org/10.1155/2013/941684 |
| work_keys_str_mv | AT piotrkjanicki targetednextgenerationresequencingofgeneidentifiesnovelmultiplevariantspatterninseverehereditaryfactorvdeficiency AT soniavaida targetednextgenerationresequencingofgeneidentifiesnovelmultiplevariantspatterninseverehereditaryfactorvdeficiency AT hamidabalmondhiry targetednextgenerationresequencingofgeneidentifiesnovelmultiplevariantspatterninseverehereditaryfactorvdeficiency |