COMBINED FV AND FVIII DEFICIENCY (F5F8D) IN A CHINESE FAMILY WITH A NOVEL MISSENSE MUTATION IN MCFD2 GENE
(Abstract release date: 05/21/15)
EHA Library. Wang A. 06/12/15; 102747; PB1685
Disclosure(s): Anhui Provincial Hospital; Anhui Provincial Hemophilia Treatment CenterHematology
Dr. Anyou Wang
Contributions
Contributions
Abstract
Abstract: PB1685
Type: Publication Only
Background
Mutations in LMAN1 or MCFD2 genes cause a rare autosomal recessive bleeding disorder, which was named combined FV and FVIII deficiency (F5F8D). Encoded proteins by MCFD2 and LMAN1 genes which may form a Ca2+-dependent cargo receptor complex have been confirmed to participate in the transport of FV and FVIII from the endoplasmic reticulum (ER) to the Golgi. We made a diagnosis F5F8D by findings of decreased FV and FVIII levels in a Chinese family.
Aims
Try to study the molecular mechanism of the disease and observe the clinical features and treatment in this family.
Methods
We do a molecular genetic analysis in the family. All the exons of LMAN1 and MCFD2 genes were PCR amplified and sequenced.
Results
We found a novel missense mutations p.Asp81Ala in MCFD2 gene in a Chinese family. The patient was homozygous missense mutation for Asp81Ala in exon 3 of MCFD2 gene, while his father and one of his sisters were heterozygous. LMAN1 gene in this family was revealed no additional mutations.
Summary
The presence of consanguineous marriage in the family played an important role in the cause of this disease. The Asp81 missense mutations reported in MCFD2 to date was carried out from the many patients, like Asp81Tyr and Asp81Asn, while the mutations ‘Asp81Ala’ have not previously been reported. Therefore, It seems likely that the mutation in the Asp 81 is a hot region, The Asp81 residue replacement by Ala most likely disrupts the MCFD2–LMAN1 cargo receptor complex.
Keyword(s): Coagulation factors, Factor V, Factor VIII, Inherited disease
Type: Publication Only
Background
Mutations in LMAN1 or MCFD2 genes cause a rare autosomal recessive bleeding disorder, which was named combined FV and FVIII deficiency (F5F8D). Encoded proteins by MCFD2 and LMAN1 genes which may form a Ca2+-dependent cargo receptor complex have been confirmed to participate in the transport of FV and FVIII from the endoplasmic reticulum (ER) to the Golgi. We made a diagnosis F5F8D by findings of decreased FV and FVIII levels in a Chinese family.
Aims
Try to study the molecular mechanism of the disease and observe the clinical features and treatment in this family.
Methods
We do a molecular genetic analysis in the family. All the exons of LMAN1 and MCFD2 genes were PCR amplified and sequenced.
Results
We found a novel missense mutations p.Asp81Ala in MCFD2 gene in a Chinese family. The patient was homozygous missense mutation for Asp81Ala in exon 3 of MCFD2 gene, while his father and one of his sisters were heterozygous. LMAN1 gene in this family was revealed no additional mutations.
Summary
The presence of consanguineous marriage in the family played an important role in the cause of this disease. The Asp81 missense mutations reported in MCFD2 to date was carried out from the many patients, like Asp81Tyr and Asp81Asn, while the mutations ‘Asp81Ala’ have not previously been reported. Therefore, It seems likely that the mutation in the Asp 81 is a hot region, The Asp81 residue replacement by Ala most likely disrupts the MCFD2–LMAN1 cargo receptor complex.
Keyword(s): Coagulation factors, Factor V, Factor VIII, Inherited disease
Abstract: PB1685
Type: Publication Only
Background
Mutations in LMAN1 or MCFD2 genes cause a rare autosomal recessive bleeding disorder, which was named combined FV and FVIII deficiency (F5F8D). Encoded proteins by MCFD2 and LMAN1 genes which may form a Ca2+-dependent cargo receptor complex have been confirmed to participate in the transport of FV and FVIII from the endoplasmic reticulum (ER) to the Golgi. We made a diagnosis F5F8D by findings of decreased FV and FVIII levels in a Chinese family.
Aims
Try to study the molecular mechanism of the disease and observe the clinical features and treatment in this family.
Methods
We do a molecular genetic analysis in the family. All the exons of LMAN1 and MCFD2 genes were PCR amplified and sequenced.
Results
We found a novel missense mutations p.Asp81Ala in MCFD2 gene in a Chinese family. The patient was homozygous missense mutation for Asp81Ala in exon 3 of MCFD2 gene, while his father and one of his sisters were heterozygous. LMAN1 gene in this family was revealed no additional mutations.
Summary
The presence of consanguineous marriage in the family played an important role in the cause of this disease. The Asp81 missense mutations reported in MCFD2 to date was carried out from the many patients, like Asp81Tyr and Asp81Asn, while the mutations ‘Asp81Ala’ have not previously been reported. Therefore, It seems likely that the mutation in the Asp 81 is a hot region, The Asp81 residue replacement by Ala most likely disrupts the MCFD2–LMAN1 cargo receptor complex.
Keyword(s): Coagulation factors, Factor V, Factor VIII, Inherited disease
Type: Publication Only
Background
Mutations in LMAN1 or MCFD2 genes cause a rare autosomal recessive bleeding disorder, which was named combined FV and FVIII deficiency (F5F8D). Encoded proteins by MCFD2 and LMAN1 genes which may form a Ca2+-dependent cargo receptor complex have been confirmed to participate in the transport of FV and FVIII from the endoplasmic reticulum (ER) to the Golgi. We made a diagnosis F5F8D by findings of decreased FV and FVIII levels in a Chinese family.
Aims
Try to study the molecular mechanism of the disease and observe the clinical features and treatment in this family.
Methods
We do a molecular genetic analysis in the family. All the exons of LMAN1 and MCFD2 genes were PCR amplified and sequenced.
Results
We found a novel missense mutations p.Asp81Ala in MCFD2 gene in a Chinese family. The patient was homozygous missense mutation for Asp81Ala in exon 3 of MCFD2 gene, while his father and one of his sisters were heterozygous. LMAN1 gene in this family was revealed no additional mutations.
Summary
The presence of consanguineous marriage in the family played an important role in the cause of this disease. The Asp81 missense mutations reported in MCFD2 to date was carried out from the many patients, like Asp81Tyr and Asp81Asn, while the mutations ‘Asp81Ala’ have not previously been reported. Therefore, It seems likely that the mutation in the Asp 81 is a hot region, The Asp81 residue replacement by Ala most likely disrupts the MCFD2–LMAN1 cargo receptor complex.
Keyword(s): Coagulation factors, Factor V, Factor VIII, Inherited disease
{{ help_message }}
{{filter}}