Two novel and one recurrent missense mutation in the factor XIII A gene in two Dutch patients with factor XIII deficiency

A transversion in exon 8 of the FXIII A subunit gene (Arg326Gln substitution). Proband 1 was also heterozygous for a novel G-->T transversion in exon 7, which predicts a Val316Phe substitution. Two of her sons were heterozygous for this mutation and showed low FXIII activity and FXIII A subunit antigen levels. Val316 is a well-conserved amino acid among the transglutaminase family, located within the core domain, close to the Cys314 member of the catalytic triad. Proband 2 had a unique 2-bp (TT) insertion in one of the alleles within or adjacent to the -7 to -20 T tail of intron A. This insertion was not found in 50 healthy individuals, which supports this being the second mutation in this patient. -->
ISSN: 0007-1048
DOI: 10.1046/j.1365-2141.2001.02577.x
Přístupová URL adresa: https://explore.openaire.eu/search/publication?articleId=doi_________::fa2cffcb3308be7744f3e2b969c18307
https://doi.org/10.1046/j.1365-2141.2001.02577.x
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Přírůstkové číslo: edsair.doi...........fa2cffcb3308be7744f3e2b969c18307
Autor: A. Sturk, J. Stibbe, E. B. Gómez García, M. Kappers, Rogier M. Bertina, S. R. Poort, M. C. L. Schaap
Rok vydání: 2001
Předmět:
Zdroj: British Journal of Haematology. 112:513-518
ISSN: 0007-1048
DOI: 10.1046/j.1365-2141.2001.02577.x
Popis: Congenital factor XIII (FXIII) deficiency is a rare autosomal recessive disorder, usually attributed to a defect in the FXIII A subunit, whose genetic basis has been studied in a number of cases. We describe here the genetic variations found in two unrelated patients with FXIII deficiency. Both patients, under prophylactic substitution with FXIII concentrate, showed low plasma FXIII A subunit antigen levels with undetectable A subunit antigen in the platelets and normal plasma B antigen levels, which indicate that the defects are present in the A subunit of the molecule. Both probands were heterozygous for a previously reported G-->A transversion in exon 8 of the FXIII A subunit gene (Arg326Gln substitution). Proband 1 was also heterozygous for a novel G-->T transversion in exon 7, which predicts a Val316Phe substitution. Two of her sons were heterozygous for this mutation and showed low FXIII activity and FXIII A subunit antigen levels. Val316 is a well-conserved amino acid among the transglutaminase family, located within the core domain, close to the Cys314 member of the catalytic triad. Proband 2 had a unique 2-bp (TT) insertion in one of the alleles within or adjacent to the -7 to -20 T tail of intron A. This insertion was not found in 50 healthy individuals, which supports this being the second mutation in this patient.
Databáze: OpenAIRE
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