PMID: 18411802Apr 17, 2008Paper

Characterization of a large deletion that leads to congenital factor XIII deficiency

Rinsho byori. The Japanese journal of clinical pathology
Manabu OtakiKatsuyuki Fukutake

Abstract

Congenital factor XIII deficiency is a rare bleeding disorder that is inherited in an autosomal recessive manner with a frequency of 1 per 2 million individuals in the human population. In Japan, 53 cases of factor XIII deficiency were registered in the national survey for blood coagulation disorders in 2006. One hundred twenty-three cases were listed in the international Factor XIII Registry (http://www.f13-database.de/) by October 2007. The most frequent genomic abnormalities among the registered cases are point mutations; nucleotide deletions have been identified in only 16 cases. Most deletions are less than 20 bp; only 2 large deletions have been reported. However, detailed studies in either of these 2 cases have not been performed. We analyzed a case of congenital factor XIII deficiency. The patient is Japanese born to consanguineous parents, and his factor XIII A antigen and activity levels are both less than 10% of normal. The LA-PCR product for exons 4-6 of the factor XIII gene was 5 kb smaller than expected. The deletion is exactly 5984 bp long, including the entire exon 5. This finding suggests that the deletion caused a frameshift that produced a premature termination codon in exon 6. Deletions usually occur in repe...Continue Reading

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