دورية أكاديمية
Analysis of PROC mutations and clinical features in 22 unrelated families with inherited protein C deficiency.
| العنوان: | Analysis of PROC mutations and clinical features in 22 unrelated families with inherited protein C deficiency. |
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| المؤلفون: | Xu F; Department of Laboratory Medicine, Key Laboratory of Clinical Laboratory Diagnosis and Translational Research of Zhejiang Province, the First Affiliated Hospital of Wenzhou Medical University, Wenzhou, 325015, China., Zhang K; Department of Laboratory Medicine, Key Laboratory of Clinical Laboratory Diagnosis and Translational Research of Zhejiang Province, the First Affiliated Hospital of Wenzhou Medical University, Wenzhou, 325015, China., Xu Q; Department of Laboratory Medicine, Key Laboratory of Clinical Laboratory Diagnosis and Translational Research of Zhejiang Province, the First Affiliated Hospital of Wenzhou Medical University, Wenzhou, 325015, China., Ye L; Department of Laboratory Medicine, Key Laboratory of Clinical Laboratory Diagnosis and Translational Research of Zhejiang Province, the First Affiliated Hospital of Wenzhou Medical University, Wenzhou, 325015, China., Zeng M; Department of Laboratory Medicine, Key Laboratory of Clinical Laboratory Diagnosis and Translational Research of Zhejiang Province, the First Affiliated Hospital of Wenzhou Medical University, Wenzhou, 325015, China., Jin Y; Department of Laboratory Medicine, Key Laboratory of Clinical Laboratory Diagnosis and Translational Research of Zhejiang Province, the First Affiliated Hospital of Wenzhou Medical University, Wenzhou, 325015, China., Wang M; Department of Laboratory Medicine, Key Laboratory of Clinical Laboratory Diagnosis and Translational Research of Zhejiang Province, the First Affiliated Hospital of Wenzhou Medical University, Wenzhou, 325015, China., Yang L; Department of Laboratory Medicine, Key Laboratory of Clinical Laboratory Diagnosis and Translational Research of Zhejiang Province, the First Affiliated Hospital of Wenzhou Medical University, Wenzhou, 325015, China. YLH91@163.com. |
| المصدر: | Annals of hematology [Ann Hematol] 2024 Feb; Vol. 103 (2), pp. 645-652. Date of Electronic Publication: 2023 Nov 10. |
| نوع المنشور: | Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: Springer Verlag Country of Publication: Germany NLM ID: 9107334 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-0584 (Electronic) Linking ISSN: 09395555 NLM ISO Abbreviation: Ann Hematol Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: Berlin : Springer Verlag Original Publication: Berlin ; New York : Springer International, c1991- |
| مواضيع طبية MeSH: | Protein C Deficiency*/genetics , Protein C Deficiency*/diagnosis , Thrombophilia*, Humans ; Protein C/genetics ; Protein C/metabolism ; Mutation ; Mutation, Missense |
| مستخلص: | Currently, limited information is available in the literature regarding the relationships between PROC mutations and clinical features in Chinese individuals. We aimed to characterize severe congenital Protein C deficiency in 22 unrelated Chinese families in a tertiary hospital by analyzing its clinical manifestation, associated risk factors, and gene mutations. We measured protein C activity and antigen levels for all participants, screened them for mutations in the PROC gene, and analyzed the clinical features of each family to identify commonalities and differences. The analysis revealed a total of 75 individuals with PCD and 16 different PROC mutations, including 12 missense mutations and 4 deletion mutations. Among them, 11 who were compound heterozygotes or homozygotes for mutations tended to develop symptoms at a younger age without any clear triggers. In contrast, the remaining 64 individuals who were heterozygotes for mutations often had clear triggers for their symptoms and experienced a milder course of the disease. It is worth noting that the mutation c.565C > T occurred most frequently, being identified in 8 out of 22 families (36%). Our team also reported five novel mutations, including c.742-744delAAG, c.383G > A, c.997G > A, c.1318C > T, and c.833T > C mutations. The identification of five novel mutations adds to the richness of the Human Genome Database. Asymptomatic heterozygotes are not uncommon, and they are prone to develop symptoms with obvious triggers. The evidence presented strongly suggest that asymptomatic individuals with family history of protein C deficiency can benefit from mutational analysis of PROC gene. (© 2023. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.) |
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| معلومات مُعتمدة: | Y20210111 the Wenzhou Basic Medical and Health Science and Technology Project; 2022E10022 the Key Laboratory of Clinical Laboratory Diagnosis and Translational Research of Zhejiang Province |
| فهرسة مساهمة: | Keywords: Gene; Mutation; PC deficiency; Protein C; Thrombophilias |
| المشرفين على المادة: | 0 (Protein C) |
| SCR Disease Name: | Thrombophilia, hereditary |
| تواريخ الأحداث: | Date Created: 20231110 Date Completed: 20240122 Latest Revision: 20240122 |
| رمز التحديث: | 20240122 |
| DOI: | 10.1007/s00277-023-05487-w |
| PMID: | 37950050 |
| قاعدة البيانات: | MEDLINE |
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Full Text Finder | تدمد: | 1432-0584 |
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| DOI: | 10.1007/s00277-023-05487-w |