Clinical manifestations and gene analysis of 18 cases of hereditary protein S deficiency / 中华血液学杂志
Chinese Journal of Hematology
;
(12): 48-53, 2022.
Artigo
em Chinês
| WPRIM
| ID: wpr-929529
ABSTRACT
Objective:
To analyze the clinical manifestations and molecular pathogenesis of 18 patients with inherited protein S (PS) deficiency.Methods:
Eighteen patients with inherited PS deficiency who were admitted to the Institute of Hematology & Blood Diseases Hospital from June 2016 to February 2019 were analyzed activity of protein C (PC) and antithrombin (AT) , PS activity were measured for phenotype diagnosis; high throughput sequencing (HTS) was used for screening of coagulation disease-related genes; Sanger sequencing was used to confirm candidate variants; Swiss-model was used for three-dimensional structure analysis.Results:
The PSC of 18 patients ranged from 12.5 to 48.2 U/dL. Among them, 16 cases developed deep vein thrombosis, including 2 cases each with mesenteric vein thrombosis and cerebral infarction, and 1 case each with pulmonary embolism and deep vein thrombosis during pregnancy. A total of 16 PROS1 gene mutations were detected, and 5 nonsense mutations (c.134_162del/p.Leu45*, c.847G>T/p.Glu283*, c.995_996delAT/p.Tyr332*, c.1359G> A/p.Trp453*, c.1474C>T/p.Gln492*) , 2 frameshift mutations (c.1460delG/p.Gla487Valfs*9 and c.1747_1750delAATC/p.Asn583Wfs*9) and 1 large fragment deletion (exon9 deletion) were reported for the first time. In addition, the PSC of the deep vein thrombosis during pregnancy case was 55.2 U/dL carrying PROC gene c.565C>T/p.Arg189Trp mutation.Conclusion:
The newly discovered gene mutations enriched the PROS1 gene mutation spectrum which associated with inherited PS deficiency.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Proteína C
/
Antitrombina III
/
Testes Genéticos
/
Proteína S
/
Deficiência de Proteína S
/
Mutação
Tipo de estudo:
Estudo prognóstico
Limite:
Feminino
/
Humanos
/
Gravidez
Idioma:
Chinês
Revista:
Chinese Journal of Hematology
Ano de publicação:
2022
Tipo de documento:
Artigo
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