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Antithrombin Deficiency Is Associated with a Novel Homozygous Detrimental Mutation in SERPINC1 Gene in a Saudi Female.

التفاصيل البيبلوغرافية
العنوان: Antithrombin Deficiency Is Associated with a Novel Homozygous Detrimental Mutation in SERPINC1 Gene in a Saudi Female.
المؤلفون: Alqarni S; Department of Clinical Laboratory Science, College of Applied Medical Science, King Saud University, Riyadh, Saudi Arabia., Alqarni B; Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia., Alsultan A; Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia.; Oncology Center, King Saud University Medical City, Riyadh, Saudi Arabia.
المصدر: Case reports in medicine [Case Rep Med] 2023 Apr 20; Vol. 2023, pp. 8872346. Date of Electronic Publication: 2023 Apr 20 (Print Publication: 2023).
نوع المنشور: Case Reports
اللغة: English
بيانات الدورية: Publisher: Hindawi Pub. Corp Country of Publication: United States NLM ID: 101512910 Publication Model: eCollection Cited Medium: Print ISSN: 1687-9627 (Print) NLM ISO Abbreviation: Case Rep Med Subsets: PubMed not MEDLINE
أسماء مطبوعة: Original Publication: New York, NY : Hindawi Pub. Corp.
مستخلص: 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.
Competing Interests: The authors declare that they have no conflicts of interest.
(Copyright © 2023 Sana Alqarni et al.)
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تواريخ الأحداث: Date Created: 20230501 Latest Revision: 20230502
رمز التحديث: 20240628
مُعرف محوري في PubMed: PMC10139800
DOI: 10.1155/2023/8872346
PMID: 37124980
قاعدة البيانات: MEDLINE
الوصف
تدمد:1687-9627
DOI:10.1155/2023/8872346