The current study was to elucidate the molecular defect in a 32-year-old Chinese woman with heavy menorrhagia and delayed wound healing. The F11 gene was amplified by PCR and screened for mutations. Then identified mutations were analyzed by in-silico programs and molecular modeling analysis. This woman was found to have severely low levels of factor XI (FXI) (FXI:C: 2.0%; FXI:Ag: 5.4%) by surgical screening. Further DNA sequencing of F11 reveled a novel mutation (p.Ser295Ile) in the Ap4 domain and an already known mutation (p.Trp228stop) in the Ap3 domain. Pedigree analysis showed that the new mutation was inherited from her father (FXI:C: 41%), whereas the other was inherited from her mother (FXI:C: 62%). Modeling analysis indicated Ser295Ile mutation probably determining important structural changes in the protein folding. Both of the heterozygous mutation contribute to the severe FXI deficiency by interfering with correct assembly of the region.
aDepartment of Laboratory Medicine
bEmergency Center, The Affiliated Hospital of Xuzhou Medical University, Xuzhou
cDepartment of Clinical Laboratory, The Second Affiliated Hospital of Wenzhou Medical University, Wenzhou, China
Correspondence to Hongxiang Ding, Department of Clinical Laboratory, The Second Affiliated Hospital of Wenzhou Medical University, Lucheng District, Wenzhou 325000, China Tel: +86 57788002009; fax: +86 57788002009; e-mail: firstname.lastname@example.org
Received 17 September, 2018
Revised 26 December, 2018
Accepted 14 January, 2019