RGD Reference Report - A novel mutation that leads to a congenital factor XI deficiency in a Japanese family. - Rat Genome Database

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A novel mutation that leads to a congenital factor XI deficiency in a Japanese family.

Authors: Sato, E  Kawamata, N  Kato, A  Oshimi, K 
Citation: Sato E, etal., Am J Hematol. 2000 Apr;63(4):165-9.
RGD ID: 11041742
Pubmed: PMID:10706758   (View Abstract at PubMed)

We have identified a novel mutation leading to a congenital deficiency of the coagulation factor XI (FXI) in a Japanese family. A propositus was a 42-year-old female patient without bleeding tendency. Coagulant activity and the antigen level of FXI in her plasma were below the detectable range. The nucleotide sequences of the FXI gene of this patient were determined by a direct sequence method established in this study. A novel nonsense mutation (CAA; Gly263 --> TAA; stop) was identified in exon 8 of the FXI gene. Her parents are first cousins, and a polymerase chain reaction-restriction-fragment length polymorphism analysis revealed that her parents were heterozygous at this nucleotide position. This patient inherited mutant alleles from her parents and is homozygous at this nucleotide position. The nonsense mutation in the FXI gene is responsible for her deficiency of FXI.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
factor XI deficiency  ISOF11 (Homo sapiens)11041742; 11041742DNA:nonsense mutation:exon:G263X(human)RGD 
factor XI deficiency  IAGP 11041742DNA:nonsense mutation:exon:G263X(human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Reduced factor XI activity  IAGP 11041742DNA:nonsense mutation:exon:G263X(human)RGD 
Objects Annotated

Genes (Rattus norvegicus)
F11  (coagulation factor XI)

Genes (Mus musculus)
F11  (coagulation factor XI)

Genes (Homo sapiens)
F11  (coagulation factor XI)


Additional Information