A NOVEL FIBRINOGEN VARIANT: DYSFIBRINOGENEMIA ASSOCIATED WITH ?ASP185ASN SUBSTITUTION
(Abstract release date: 05/19/16)
EHA Library. Zhou R. 06/09/16; 134650; PB1750
Prof. Dr. Rongfu Zhou
Contributions
Contributions
Abstract
Abstract: PB1750
Type: Publication Only
Background
Congenital dysfibrinogenemia is a qualitative congenital fibrinogen disorder characterized by normal antigen levels of a dysfunctional fibrinogen.
Aims
A patient with abnormal coagulation test was diagnosed as congenital dysfibrinogenemia. In this study, the causative mutations responsible for dysfibrinogenemia were detected in proband and her child.
Methods
The proband from Nanjing, China was presented with low fibrinogen and prolonged thrombin time（TT）during prenatal routine medical examination but with asymptoms. Her son also had low fibrinogen and prolonged TT. After extraction, genomic DNA was amplified by polymerase chain reaction. DNA sequencing was performed on the purified PCR products.
Results
Two heterozygous missence mutations including AαArg16His and γAsp185Asn were discovered in the proband. Her son only harbored the former mutation. AαArg16His had been reported by other teams and γAsp185Asn was identified firstly in our study as a novel variant. Endonuclease restriction digestion was performed to exclude polymorphism. The homologous sequences alignment was compared among different species to identify this new mutation site was a kind of conservative one.
Conclusion
The heterozygous AαArg16His and γAsp185Asn mutations identified in the study probably underlies the dysfibrinogenemia in this pedigree. The novel fibrinogen variant (γAsp185Asn) was named as fibrinogen Nanjing.
Session topic: E-poster
Keyword(s): Fibrinogen, Mutation analysis
Type: Publication Only
Background
Congenital dysfibrinogenemia is a qualitative congenital fibrinogen disorder characterized by normal antigen levels of a dysfunctional fibrinogen.
Aims
A patient with abnormal coagulation test was diagnosed as congenital dysfibrinogenemia. In this study, the causative mutations responsible for dysfibrinogenemia were detected in proband and her child.
Methods
The proband from Nanjing, China was presented with low fibrinogen and prolonged thrombin time（TT）during prenatal routine medical examination but with asymptoms. Her son also had low fibrinogen and prolonged TT. After extraction, genomic DNA was amplified by polymerase chain reaction. DNA sequencing was performed on the purified PCR products.
Results
Two heterozygous missence mutations including AαArg16His and γAsp185Asn were discovered in the proband. Her son only harbored the former mutation. AαArg16His had been reported by other teams and γAsp185Asn was identified firstly in our study as a novel variant. Endonuclease restriction digestion was performed to exclude polymorphism. The homologous sequences alignment was compared among different species to identify this new mutation site was a kind of conservative one.
Conclusion
The heterozygous AαArg16His and γAsp185Asn mutations identified in the study probably underlies the dysfibrinogenemia in this pedigree. The novel fibrinogen variant (γAsp185Asn) was named as fibrinogen Nanjing.
Session topic: E-poster
Keyword(s): Fibrinogen, Mutation analysis
Abstract: PB1750
Type: Publication Only
Background
Congenital dysfibrinogenemia is a qualitative congenital fibrinogen disorder characterized by normal antigen levels of a dysfunctional fibrinogen.
Aims
A patient with abnormal coagulation test was diagnosed as congenital dysfibrinogenemia. In this study, the causative mutations responsible for dysfibrinogenemia were detected in proband and her child.
Methods
The proband from Nanjing, China was presented with low fibrinogen and prolonged thrombin time（TT）during prenatal routine medical examination but with asymptoms. Her son also had low fibrinogen and prolonged TT. After extraction, genomic DNA was amplified by polymerase chain reaction. DNA sequencing was performed on the purified PCR products.
Results
Two heterozygous missence mutations including AαArg16His and γAsp185Asn were discovered in the proband. Her son only harbored the former mutation. AαArg16His had been reported by other teams and γAsp185Asn was identified firstly in our study as a novel variant. Endonuclease restriction digestion was performed to exclude polymorphism. The homologous sequences alignment was compared among different species to identify this new mutation site was a kind of conservative one.
Conclusion
The heterozygous AαArg16His and γAsp185Asn mutations identified in the study probably underlies the dysfibrinogenemia in this pedigree. The novel fibrinogen variant (γAsp185Asn) was named as fibrinogen Nanjing.
Session topic: E-poster
Keyword(s): Fibrinogen, Mutation analysis
Type: Publication Only
Background
Congenital dysfibrinogenemia is a qualitative congenital fibrinogen disorder characterized by normal antigen levels of a dysfunctional fibrinogen.
Aims
A patient with abnormal coagulation test was diagnosed as congenital dysfibrinogenemia. In this study, the causative mutations responsible for dysfibrinogenemia were detected in proband and her child.
Methods
The proband from Nanjing, China was presented with low fibrinogen and prolonged thrombin time（TT）during prenatal routine medical examination but with asymptoms. Her son also had low fibrinogen and prolonged TT. After extraction, genomic DNA was amplified by polymerase chain reaction. DNA sequencing was performed on the purified PCR products.
Results
Two heterozygous missence mutations including AαArg16His and γAsp185Asn were discovered in the proband. Her son only harbored the former mutation. AαArg16His had been reported by other teams and γAsp185Asn was identified firstly in our study as a novel variant. Endonuclease restriction digestion was performed to exclude polymorphism. The homologous sequences alignment was compared among different species to identify this new mutation site was a kind of conservative one.
Conclusion
The heterozygous AαArg16His and γAsp185Asn mutations identified in the study probably underlies the dysfibrinogenemia in this pedigree. The novel fibrinogen variant (γAsp185Asn) was named as fibrinogen Nanjing.
Session topic: E-poster
Keyword(s): Fibrinogen, Mutation analysis
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