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A novel F11 mutation in a Korean pediatric patient with recurrent epistaxis

Title
A novel F11 mutation in a Korean pediatric patient with recurrent epistaxis
Authors
Kim, Juwon;Kim, Yoonjung;Lee, Kyung-A;Choi, Jong Rak;Lyu, Chuhl Joo;Shin, Seam
Issue Date
2013
Journal Title
Blood Coagulation & Fibrinolysis
ISSN
0957-5235
Citation
Blood Coagulation & Fibrinolysis, Vol.24(4) : 433~435, 2013
Abstract
Congenital FXI deficiency (hemophilia C) is a rare bleeding disorder that has been documented mostly in Ashkenazi Jews. Unlike other hemophilias, bleeding tendency varies considerably among individuals, and FXI deficiency rarely manifests as spontaneous bleeding. FXI deficiency is caused primarily by mutations in the F11 gene. Herein, we report a case of a 10-year-old boy with recurrent nose bleeding due to FXI deficiency who was confirmed to have a novel mutation in F11. A molecular analysis of DNA extracted from peripheral blood collected from the patient [FXI clotting activity (FXI:C): 11%] revealed compound heterozygous mutations, Q226X and L424F, in F11, consistent with the severe disease phenotype of the patient. Pedigree analysis showed that the patient received L424F from his father (FXI:C = 49%) and Q226X from the mother (FXI:C = 48%). The sister (FXI:C = 47%) of the patient only had L424F, presumably inherited from her father. Multiple sequence alignment demonstrated that L424 is highly conserved across mammals, indicating that it is important for the function of FXI. In-silico analysis indicated that replacement of L424 by phenylalanine had a detrimental influence on FXI, consistent with the severe phenotype of the patient. Compilation of FXI deficiency cases in east Asian populations would be of great value because different populations appear to have different F11 mutation spectra.
URI
http://ovidsp.ovid.com/ovidweb.cgi?T=JS&CSC=Y&NEWS=N&PAGE=fulltext&AN=00001721-201306000-00015&LSLINK=80&D=ovft

http://ir.ymlib.yonsei.ac.kr/handle/22282913/88508
DOI
10.1097/MBC.0b013e32835bfe0c
Appears in Collections:
1. 연구논문 > 1. College of Medicine > Dept. of Pediatrics
1. 연구논문 > 1. College of Medicine > Dept. of Laboratory Medicine
Yonsei Authors
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