Mutations in coagulation factor XIII A gene in eight unrelated Indians. Five novel mutations identified by a novel PCR-CSGE approach

Thrombosis and Haemostasis
Giridhara R JayandharanAlok Srivastava

Abstract

Factor XIII deficiency is a rare autosomal (1:2,000,000) recessive disorder of blood coagulation usually attributed to mutations in the coagulation factor XIII (FXIII) A gene. We have studied the molecular basis of FXIII deficiency in eight unrelated South Indian patients. Their diagnosis was based on clinical history, normal plasma clotting times and increased solubility of fibrin clot in 5 mol/l urea. Genomic DNA was screened for FXIII A gene defects by a novel PCR and CSGE strategy. Mutations were identified in all these patients. Five of these were novel mutations occurring in four patients. These included a novel c.210T > G transversion in homozygosity in exon 3 predicting a Tyr69X in the beta-sandwich domain in one patient. Another patient was compound heterozygote for a novel c.791C > T transition predicting a Ser263Phe in the core domain and a novel c.2045-1G > A transition at the acceptor splice junction of intron 14. Two novel frame shifts were also identified in two patients in a homozygous condition. One of them resulted from a single base 'G' duplication (c.892_895dupG) at codons Ser290/Ala291fs affecting the core domain and the other was due to a single base 'A' duplication (c.1642_1644dupA) and at codonTyr547fs a...Continue Reading

Citations

Jul 14, 2016·Haemophilia : the Official Journal of the World Federation of Hemophilia·E EdisonA C Goodeve
Dec 18, 2013·Haemophilia : the Official Journal of the World Federation of Hemophilia·M BorhanyH P Kohler
Jul 19, 2016·Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis·Nacim LouhichiFaiza Fakhfakh
Jun 11, 2011·Haemophilia : the Official Journal of the World Federation of Hemophilia·S ShanbhagK Ghosh
Jun 25, 2016·Haemophilia : the Official Journal of the World Federation of Hemophilia·S ShanbhagS Shetty
Jan 10, 2012·Haemophilia : the Official Journal of the World Federation of Hemophilia·A ViswabandyaA Srivastava

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