Antithrombin Deficiency Is Associated with a Novel Homozygous Detrimental Mutation in SERPINC1 Gene in a Saudi Female
Antithrombin (AT) deficiency is a blood disorder associated with an increased tendency to form thrombosis. Hereditary AT deficiency is frequently caused by mutations in SERPINC1 gene. It is usually inherited as an autosomal dominant with variable penetrance. Homozygous pathogenic mutations in this g...
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| Format: | Article |
| Language: | English |
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Wiley
2023-01-01
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| Series: | Case Reports in Medicine |
| Online Access: | http://dx.doi.org/10.1155/2023/8872346 |
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| _version_ | 1849684251853717504 |
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| author | Sana Alqarni Baraah Alqarni Abdulrahman Alsultan |
| author_facet | Sana Alqarni Baraah Alqarni Abdulrahman Alsultan |
| author_sort | Sana Alqarni |
| collection | DOAJ |
| description | Antithrombin (AT) deficiency is a blood disorder associated with an increased tendency to form thrombosis. Hereditary AT deficiency is frequently caused by mutations in SERPINC1 gene. It is usually inherited as an autosomal dominant with variable penetrance. Homozygous pathogenic mutations in this gene are extremely rare. We present a case of a 7-year-old female who presented at age of 4 years with massive cerebral sinus venous thrombosis. Thrombophilia workup showed a low AT level of 30%. Targeted genetic sequencing of SERPINC1 revealed a novel pathogenic homozygous mutation c.1320C>G p. (Phe440Leu). The patient was managed initially with unfractionated heparin with AT replacement using fresh frozen plasma and was later switched to only low-molecular-weight heparin. There was no recurrence or new thrombosis with 3 years of follow-up. |
| format | Article |
| id | doaj-art-be2b6bd6677c445781c7bd805afa642a |
| institution | DOAJ |
| issn | 1687-9635 |
| language | English |
| publishDate | 2023-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Medicine |
| spelling | doaj-art-be2b6bd6677c445781c7bd805afa642a2025-08-20T03:23:31ZengWileyCase Reports in Medicine1687-96352023-01-01202310.1155/2023/8872346Antithrombin Deficiency Is Associated with a Novel Homozygous Detrimental Mutation in SERPINC1 Gene in a Saudi FemaleSana Alqarni0Baraah Alqarni1Abdulrahman Alsultan2Department of Clinical Laboratory ScienceDepartment of PediatricsDepartment of PediatricsAntithrombin (AT) deficiency is a blood disorder associated with an increased tendency to form thrombosis. Hereditary AT deficiency is frequently caused by mutations in SERPINC1 gene. It is usually inherited as an autosomal dominant with variable penetrance. Homozygous pathogenic mutations in this gene are extremely rare. We present a case of a 7-year-old female who presented at age of 4 years with massive cerebral sinus venous thrombosis. Thrombophilia workup showed a low AT level of 30%. Targeted genetic sequencing of SERPINC1 revealed a novel pathogenic homozygous mutation c.1320C>G p. (Phe440Leu). The patient was managed initially with unfractionated heparin with AT replacement using fresh frozen plasma and was later switched to only low-molecular-weight heparin. There was no recurrence or new thrombosis with 3 years of follow-up.http://dx.doi.org/10.1155/2023/8872346 |
| spellingShingle | Sana Alqarni Baraah Alqarni Abdulrahman Alsultan Antithrombin Deficiency Is Associated with a Novel Homozygous Detrimental Mutation in SERPINC1 Gene in a Saudi Female Case Reports in Medicine |
| title | Antithrombin Deficiency Is Associated with a Novel Homozygous Detrimental Mutation in SERPINC1 Gene in a Saudi Female |
| title_full | Antithrombin Deficiency Is Associated with a Novel Homozygous Detrimental Mutation in SERPINC1 Gene in a Saudi Female |
| title_fullStr | Antithrombin Deficiency Is Associated with a Novel Homozygous Detrimental Mutation in SERPINC1 Gene in a Saudi Female |
| title_full_unstemmed | Antithrombin Deficiency Is Associated with a Novel Homozygous Detrimental Mutation in SERPINC1 Gene in a Saudi Female |
| title_short | Antithrombin Deficiency Is Associated with a Novel Homozygous Detrimental Mutation in SERPINC1 Gene in a Saudi Female |
| title_sort | antithrombin deficiency is associated with a novel homozygous detrimental mutation in serpinc1 gene in a saudi female |
| url | http://dx.doi.org/10.1155/2023/8872346 |
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