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A NOVEL DELETION MUTATION (C.1254 DEL33BP OR C.1251DEL33BP) IN THE F13A GENE CAUSING SEVERE FACTOR XIII DEFICIENCY
Abstract number: P-T-049
Ding1 Q., Wang1 X., Wu1 J., Chen1 H., Wang1 H.
1Shanghai Institute of Hematology, Ruijin Hospital, Shanghai Medical College of Shanghai Jiaotong University, Shanghai, China
How-to-cite Ding Q, Wang X, Wu J, Chen H, Wang H. A NOVEL DELETION MUTATION (C.1254 DEL33BP OR C.1251DEL33BP) IN THE F13A GENE CAUSING SEVERE FACTOR XIII DEFICIENCY. J Thromb Haemost 2007; 5 Supplement 2: P-T-049
Abstract
Introduction: Congential factor XIII deficiency is a rare autosomal recessive disorder characterized by umbilical cord bleeding at birth and impaired wound healing. To date, only 72 unique mutations have been reported in the literature, most cases of FXIII deficiency are result of mutations in the gene encoding FXIII A subunits (F13A gene).
Methods: An 18-year-old boy had suffered from the umbilical cord at birth, hemarthroses and intracranial hemorrhage. The parents were health and consanguineous. The coagulation factor XIII deficiency was diagnosed by the standard laboratory clotting tests (PT, APTT, fibrinogrn level, platelet countas, bleeding time) and clot solubility test. All exons, exon-intron boundaries sequences of F13A gene were amplified by PCR and sequenced directly using ABI 377 automated sequencer. The total RNA from peripheral blood leukocytes of the patient was isolated and analyzed the transcripts by RT-PCR.
Results: The rutine clotting tests were normal and the clot solubility test was positive in the proposita, also the homozygous deletion mutation c.1254 del33bp or c.1251del33bp in exon 10 of F13A gene was identified. The parents in this family were each heterozygous for this mutation. Ectopic transcripts of F13A gene in the leukocytes of the proband revealed that the deletion would produce a truncated polypeptide, with an in-frame deletion,lacking amino acid residues 388 to 398 inclusive.
Conclusions: the proposita was diagnosed as hereditary FXIII deficiency, the homozygous c.1254 del33bp or c.1251del33bp mutation of F13 A gene located in the catalytic region is responsible for the disorder of the pedigree.
To cite this abstract use the following format:
Journal of Thrombosis and Haemostasis 2007; Volume 5, Supplement 2: abstract number
Session Details
| Date: |
01/08/2007
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| Time: |
00:00-00:00
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| Session name: |
XXIst ISTH Congress |
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| Location: |
Oxford, UK |
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