Premium
Abstract
Author(s) -
M. N. Kuppuswamy,
M. S. Bajaj,
L. Fisher,
S. P. Bajaj
Publication year - 2003
Publication title -
journal of thrombosis and haemostasis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.947
H-Index - 178
eISSN - 1538-7836
pISSN - 1538-7933
DOI - 10.1111/j.1538-7836.2003.tb00106.x
Subject(s) - medicine
P1176 Novel mutations in the factor X gene of a Taiwanese factor X-deficient patient NIA Exhibition Area 09:30 16th July, 2003 Session Type: Posters Subject area: Inherited coagulation disorders Session title: Inherited coagulation disorders Abstract: P1176 Authors: M. Shen*, J. S. Lin+, S. C. Hsu*, S. W. Lin* & B. Lin‡ *National Taiwan University Hospital, Taiwan; +Changhua Christian Hospital, Taiwan; ‡Taiwan Factor X deficiency is an autosomal recessive disorder first reported by Hougie and coworkers and by Telfer and coworkers simultaneously in 1956. It has been reported that factor X deficiency has no predilection for any particular racial or ethnic group and is found worldwide. We have seen a Taiwanese girl with severe factor X deficiency and analyzed her molecular genetic defects. The proband was a young girl born in June 1993. She was suffered from easy bruising and prolonged nasal bleeding since her age of one, prolonged bleeding from lacerated lingual frenulum had been noted at age of 1 years and 5 months. She also had recurrent pain and swelling of both ankles and right knee since age of 3. PT and aPTT were 244 s and 185.4 s, respectively, and factor X activity and antigen were <1 μg dL-1 assayed by PT system and 45.3 μg dL-1, respectively. All exons and junctions were amplified using polymerase chain reaction and sequenced. The patient was found to be compound heterozygous for a del C908 and a 1241 G to A transversion with Gly366 to Ser mutation both in exon 8. The former was originated from her father and also transmitted to her young brother and caused frame shift after amino acid 255, the latter was originated from her mother and might cause impaired substrate binding. These two molecular defects are associated with the CRMR state of factor X in this patient and have not been reported previously. In conclusion, two novel mutations of factor X gene in Taiwanese, including one deletion and one point mutation in exon 8, were identified. file:///E|/working/LAXMI-PRASAD/WileyML-3G/deepak/31-Jan/Wednesday/Abstract%20P1176.html [1/31/2014 3:50:23 PM]