PROSI Mutation With Clinical Heterogeneity in Protein S Deficiency:Report of One Case.
10.3881/j.issn.1000-503X.15541
- Author:
Xin-Yu WEI
1
;
Juan WANG
1
;
Bang-Yun TAN
2
;
Zi-Jian LI
1
Author Information
1. First Clinical Medical College of Lanzhou University,Lanzhou 730000,China.
2. Department of Laboratory,The First Hospital of Lanzhou University,Lanzhou 730000,China.
- Publication Type:Journal Article
- Keywords:
PROS1;
mutation;
protein S deficiency
- MeSH:
Humans;
Female;
Protein S/genetics*;
Protein S Deficiency/genetics*;
Pedigree;
Mutation
- From:
Acta Academiae Medicinae Sinicae
2023;45(5):863-866
- CountryChina
- Language:Chinese
-
Abstract:
Reduced protein S activity is one of the high-risk factors for venous thromboembolism.Hereditary protein S deficiency is an autosomal dominant disorder caused by mutations in the PROS1 gene.We reported a female patient with a mutation of c.292 G>T in exon 3 of the PROS1 gene,which was identified by sequencing.The genealogical analysis revealed that the mutation probably originated from the patient's mother.After searching against the PROS1 gene mutation database and the relevant literature,we confirmed that this mutation was reported for the first time internationally.
