Identification of two novel mutations in non‐Jewish factor XI deficiency

@article{Imanaka1995IdentificationOT,
  title={Identification of two novel mutations in non‐Jewish factor XI deficiency},
  author={Yasufumi Imanaka and Kalpana Lal and Takuya Nishimura and Paula H B Bolton-Maggs and EDWARD G. D. Titddenham and John H. McVey},
  journal={British Journal of Haematology},
  year={1995},
  volume={90}
}
Summary. We have studied two heterozygous unrelated CRM non‐Jewish FXI‐deficient patients. Neither of the patients carries a previously described mutation. Their FXI genes were screened by SSCP analysis following PCR amplification of each exon and the flanking intronic sequences. DNA fragments showing aberrant mobility were cloned and sequenced. The following mutations were identified: in case 1, a T to G transition in exon 12 results in the substitution of Phe‐442 by Val (FXI‐F442V); in case 2… 
Identification of a novel mutation in a non‐Jewish factor XI deficient kindred
TLDR
A large kindred of an Italian FXI‐deficient patient with a previously undescribed mutation is studied and it is concluded that this novel mutation occurred in a structurally conserved region and may therefore have interfered with either chain folding and secretion or stability of FXI and was responsible for the inherited abnormality seen in this kindred.
A novel mutation that leads to a congenital factor XI deficiency in a Japanese family
TLDR
A novel mutation leading to a congenital deficiency of the coagulation factor XI (FXI) in a Japanese family is identified in exon 8 of the FXI gene and this patient inherited mutant alleles from her parents and is homozygous at this nucleotide position.
Characterization of seven novel mutations causing factor XI deficiency
TLDR
Five FXI missense mutations (four novel) were associated with impaired secretion albeit normal dimerization, underscoring the existence of other mechanisms for defective secretion.
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TLDR
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A common ancestral mutation (C128X) occurring in 11 non‐Jewish families from the UK with factor XI deficiency
TLDR
Haplotype analysis of 11 families, including a further kindred previously reported from the USA, but which originally came from the UK (in which the index patient was homozygous for C128X), suggests a founder effect.
Molecular genetic analysis of severe coagulation factor XI deficiency in six Italian patients.
TLDR
The identification and characterization of two novel mutations widen the mutational spectrum of FXI deficiency and reveal that patients carrying the type II mutation share a common haplotype, perhaps derived from a Jewish ancestor.
Factor XI deficiency in French Basques is caused predominantly by an ancestral Cys38Arg mutation in the factor XI gene.
TLDR
Haplotype analysis based on the study of 10 intragenic polymorphisms was consistent with a common ancestry (a founder effect) for the Cys38Arg mutation, and Expression studies showed that Cys 38Arg and Cys237Tyr factor XI were produced in transfected baby hamster kidney cells, but their secretion was impaired.
A factor XI deficiency associated with a nonsense mutation (Trp501stop) in the catalytic domain
TLDR
A novel mutation in an asymptomatic 65‐year‐old Japanese man with severe factor XI deficiency is identified, resulting in a substitution of Trp501 (TGG) by a stop codon (TAG) in the catalytic domain.
Heterozygous factor XI deficiency associated with three novel mutations
TLDR
The results demonstrated that genotypic analysis is a useful tool for conclusive differentiation between heterozygous factor XI deficiency and normal subjects.
Detection of single nucleotide polymorphisms in coagulation factor XI deficient patients by multitemperature single‐strand conformation polymorphism analysis
TLDR
It is concluded that the MSSCP is a sensitive, fast, and cost effective screening method for the detection of FXI gene mutations.
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TLDR
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The seventh edition of the haemophilia B database lists in easily accessible form all known factor IX mutations due to small changes (base substitutions and short additions and/or deletions of <30
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