[Identification of a novel mutation of F (13) A gene in a pedigree with factor XIII deficiency].
OBJECTIVE
To explore F (13) A gene mutation in a pedigree with hereditary coagulation factor XIII (FXIII) deficiency.


METHODS
The FXIII deficiency was diagnosed by clot solubility test and other standard laboratory clotting tests. All exons, exon-intron boundary sequences of F(13) A gene were amplified by PCR and the products were sequenced directly. Any mutation identified by direct sequencing was confirmed by reverse sequencing. The mutation identified in the proband was screened in the family members.


RESULTS
The assays of PT, Qiulan, fibrinogen leveling, platelet counts, bleeding time were normal and the clot solubility test was positive in the proband. The homozygous deletion of 33 nucleotides (127067de133) in exon 10 of F(13) A gene which resulted in deletion of 11 amino acids in FXIIII A protein with 720aa residues was identified in the proband. Family studies showed that the mutation was inherited from the parents both of whom carried the heterozygous deletion mutation.


CONCLUSIONS
The homozygous 127067de133 mutation of F(13) A gene is responsible for the disorder of the pedigree.
Jiao
Wei-Yun
WY
Department of Hematology, Anhui Province Hospital, Anhui Medical University, Hefei 230001, China.
Wu
Jing-Sheng
JS
Ding
Qiu-Lan
QL
Wang
Xue-Feng
XF
Xu
Xiu-Cai
XC
Ding
Kai-Yang
KY
Liu
Xin
X
D000293:Adolescent; D005176:Factor XIII / Q000235:genetics*; D005177:Factor XIII Deficiency / Q000235:genetics*; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D010375:Pedigree; D017384:Sequence Deletion
D005176:Factor XIII