COMBINED DEFICIENCY OF FACTOR V AND VIII CAUSED BY TWO NOVEL MUTATIONS AT MCFD2 GENE
(Abstract release date: 05/19/16)
EHA Library. Zhou R. 06/09/16; 135357; LB2246
Prof. Dr. Rongfu Zhou
Contributions
Contributions
Abstract
Abstract: LB2246
Type: Eposter Presentation
Background
Combined deficiency of coagulation factor V and VIII (F5F8D) is a rare autosomal recessive disorder characterized by a mild-to-moderate bleeding tendency with the reduction of the two factors in plasma. Mutations in LMAN1 and MCFD2 gene account for all F5F8D patients.
Aims
To identify the molecular mutation causing F5F8D in a Chinese pedigree.
Methods
The activated partial thromboplastin time(APTT), prothrombin time (PT) and coagulate activities of coagulation factors of the proband and her parents were detected for diagnosis. PCR was used to amplify the exons and intron/exon boundaries of LMAN1 and MCFD2 genes . The amplicons were sequenced directly and aligned with software chromas 2.
Results
The proband’s APTT, PT, FV:C and FVIII:C was 75s, 17s, 9.9% and 5.9%, respectively, while those parameters of her parents were all within the normal range. Sequencing the 13 exons of the LMAN1 gene and 4 exons of the MCFD2 gene from the patient revealed two novel missense mutations. The first one was a heterozygous mutation: g.35T＞A, causing the Leu12Glu in exon2 of MCFD2. The second one was a homozygous mutation: g.398A＞T，leading to the Asp133Val in exon 4 of MCFD2. The two mutations Leu12Glu and Asp133Val were identified in the compound heterozygous state in her parents.
Conclusion
The two novel mutations might be the molecular pathological mechanism causing F5F8D in this pedigree.
Session topic: E-poster
Keyword(s): Mutation, PCR
Type: Eposter Presentation
Background
Combined deficiency of coagulation factor V and VIII (F5F8D) is a rare autosomal recessive disorder characterized by a mild-to-moderate bleeding tendency with the reduction of the two factors in plasma. Mutations in LMAN1 and MCFD2 gene account for all F5F8D patients.
Aims
To identify the molecular mutation causing F5F8D in a Chinese pedigree.
Methods
The activated partial thromboplastin time(APTT), prothrombin time (PT) and coagulate activities of coagulation factors of the proband and her parents were detected for diagnosis. PCR was used to amplify the exons and intron/exon boundaries of LMAN1 and MCFD2 genes . The amplicons were sequenced directly and aligned with software chromas 2.
Results
The proband’s APTT, PT, FV:C and FVIII:C was 75s, 17s, 9.9% and 5.9%, respectively, while those parameters of her parents were all within the normal range. Sequencing the 13 exons of the LMAN1 gene and 4 exons of the MCFD2 gene from the patient revealed two novel missense mutations. The first one was a heterozygous mutation: g.35T＞A, causing the Leu12Glu in exon2 of MCFD2. The second one was a homozygous mutation: g.398A＞T，leading to the Asp133Val in exon 4 of MCFD2. The two mutations Leu12Glu and Asp133Val were identified in the compound heterozygous state in her parents.
Conclusion
The two novel mutations might be the molecular pathological mechanism causing F5F8D in this pedigree.
Session topic: E-poster
Keyword(s): Mutation, PCR
Abstract: LB2246
Type: Eposter Presentation
Background
Combined deficiency of coagulation factor V and VIII (F5F8D) is a rare autosomal recessive disorder characterized by a mild-to-moderate bleeding tendency with the reduction of the two factors in plasma. Mutations in LMAN1 and MCFD2 gene account for all F5F8D patients.
Aims
To identify the molecular mutation causing F5F8D in a Chinese pedigree.
Methods
The activated partial thromboplastin time(APTT), prothrombin time (PT) and coagulate activities of coagulation factors of the proband and her parents were detected for diagnosis. PCR was used to amplify the exons and intron/exon boundaries of LMAN1 and MCFD2 genes . The amplicons were sequenced directly and aligned with software chromas 2.
Results
The proband’s APTT, PT, FV:C and FVIII:C was 75s, 17s, 9.9% and 5.9%, respectively, while those parameters of her parents were all within the normal range. Sequencing the 13 exons of the LMAN1 gene and 4 exons of the MCFD2 gene from the patient revealed two novel missense mutations. The first one was a heterozygous mutation: g.35T＞A, causing the Leu12Glu in exon2 of MCFD2. The second one was a homozygous mutation: g.398A＞T，leading to the Asp133Val in exon 4 of MCFD2. The two mutations Leu12Glu and Asp133Val were identified in the compound heterozygous state in her parents.
Conclusion
The two novel mutations might be the molecular pathological mechanism causing F5F8D in this pedigree.
Session topic: E-poster
Keyword(s): Mutation, PCR
Type: Eposter Presentation
Background
Combined deficiency of coagulation factor V and VIII (F5F8D) is a rare autosomal recessive disorder characterized by a mild-to-moderate bleeding tendency with the reduction of the two factors in plasma. Mutations in LMAN1 and MCFD2 gene account for all F5F8D patients.
Aims
To identify the molecular mutation causing F5F8D in a Chinese pedigree.
Methods
The activated partial thromboplastin time(APTT), prothrombin time (PT) and coagulate activities of coagulation factors of the proband and her parents were detected for diagnosis. PCR was used to amplify the exons and intron/exon boundaries of LMAN1 and MCFD2 genes . The amplicons were sequenced directly and aligned with software chromas 2.
Results
The proband’s APTT, PT, FV:C and FVIII:C was 75s, 17s, 9.9% and 5.9%, respectively, while those parameters of her parents were all within the normal range. Sequencing the 13 exons of the LMAN1 gene and 4 exons of the MCFD2 gene from the patient revealed two novel missense mutations. The first one was a heterozygous mutation: g.35T＞A, causing the Leu12Glu in exon2 of MCFD2. The second one was a homozygous mutation: g.398A＞T，leading to the Asp133Val in exon 4 of MCFD2. The two mutations Leu12Glu and Asp133Val were identified in the compound heterozygous state in her parents.
Conclusion
The two novel mutations might be the molecular pathological mechanism causing F5F8D in this pedigree.
Session topic: E-poster
Keyword(s): Mutation, PCR
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