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[Genotype and phenotype analysis of congenital coagulator factor VII deficiency in four Chinese pedigrees]
Ming-hua Jiang1, Zhao-yue Wang, Zi-qiang Yu
1Jiangsu Institute of Haematology, the First Affiliated Hospital of Soochow University, Key Lab of Thrombosis and Hemostasis of Ministry of Health, Suzhou 215006, China.
Insights
This study identified novel gene mutations in Chinese families with congenital coagulation factor VII deficiency. Findings include new missense, nonsense, and spliceosome mutations, advancing understanding of this bleeding disorder.
Area of Science:
- Genetics
- Hematology
- Molecular Biology
Background:
- Congenital coagulation factor VII deficiency is a rare inherited bleeding disorder.
- Understanding the genetic basis is crucial for diagnosis and management.
Purpose of the Study:
- To investigate the clinical features and identify gene mutations in four Chinese families with factor VII deficiency.
- To characterize novel mutations associated with this condition.
Main Methods:
- Coagulation tests (PT, FVII:C, FVII:Ag) were performed.
- PCR amplification and sequencing of the FVII gene were conducted on affected individuals and families.
Main Results:
- Prolonged prothrombin time (PT) and reduced factor VII activity (FVII:C) and antigen (FVII:Ag) levels were observed.
- Four distinct mutations were identified: His408Gln, del CT (5078-5079), IVS6-1G→A, and Arg364Gln.
- Two mutations (Gln426stop and IVS6-1G→A) are novel worldwide, while two (del CT and His408Gln) are novel in China.
Conclusions:
- Novel mutations in the FVII gene contribute to inherited coagulation factor VII deficiency in the Chinese population.
- Identification of these mutations expands the spectrum of known genetic defects for factor VII deficiency.
Objective:
To investigate the clinical manifestation and gene mutation in four Chinese pedigrees with the congenital coagulation factor VII deficiency.
Methods:
Prothrombin time (PT), activated partial thromboplastin time, thrombin time and plasma fibrinogen were measured using STAGO STA-R automatic coagulation analyzer, and the coagulation activity of factor VII (FVII:C) was determined by a PT-based one stage method, and factor VII antigen (FVII:Ag) level by a sandwich enzyme-linked immunoabsorbsent assay. All exons, exon-intron boundaries and 3',5'untranslated regions of the FVII gene from the genomic DNA of the probands and their families were amplified by PCR, and then sequenced.
Results:
PT was significantly prolonged, and FVII:C and FVII:Ag were decreased and the following mutations were identified in the four probands: a homozygous transversion of 18041 T→G resulting in His408→Gln substitution in exon 8 in proband 1, a homozygous double nucleotide deletion, del CT (5078 - 5079) in exon 1 in proband 2, a double heterozygous of IVS6-1G→A and Gln426→stop in proband 3, and a double heterozygous of IVS6-1G→A and Arg364Gln in prohand 4.
Conclusion:
Two missense mutations, His408Gln, Arg364Gln and one nonsense, Gln426stop in the catalytic domain of FVII and one double nucleotide deletion, del CT (5078 - 5079) in exon 1 and one splicesome mutation, IVS6-1G→A in intron 6 were separately identified in four Chinese pedigrees with inherited coagulation factor VII deficiency. The Gln426stop and IVS6-1G→A were first identified in the world and the homozygous del CT (5078 - 5079) and His408Gln were first found in China.
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