Thromb Haemost 2016; 116(02): 394-396
DOI: 10.1160/TH16-02-0078
Letters to the Editor
Schattauer GmbH

Hypofibrinogenaemia with novel mutations (γ228Leu→Leu and γ229Gly→Glu) at neighbouring codons; allelic phase and expression level

Stephen O. Brennan
1   Pathology Department, University of Otago, Christchurch, New Zealand
2   Canterbury Health Laboratories, Christchurch, New Zealand
,
Andrew D Laurie
2   Canterbury Health Laboratories, Christchurch, New Zealand
,
Nina Raju
3   Haematology Department, Prince Charles Hospital, Brisbane, Australia
› Author Affiliations
Further Information

Publication History

Received: 01 February 2016

Accepted after minor revision: 31 March 2016

Publication Date:
09 March 2018 (online)

 
  • References

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  • 2 Brennan SO.. Variation of fibrinogen oligosaccharide structure in the acute phase response; possible haemorrhagic implications. Biochim Biophy Acta Clinical 2015; 3: 221-226.
  • 3 Haverkate F, Samama M.. Familial dysfibrinogenaemia and thrombophilia. Report on a study of the SSC subcommittee on fibrinogen. Thromb Haemost 1995; 73: 151-161.
  • 4 Exome Variant Server. NHLBI GO Exome Sequencing Project (ESP). Seattle, WA. (URL: http://evs.gs.washington.edu/EVS/ ) Accessed January 1, 2016.
  • 5 Brennan SO. et al. Benign FGB (148Lys→Asn, and 448Arg→Lys), and novel causative v211Tyr→His mutation distinguished by time of flight mass spectrometry in a family with hypofibrinogenaemia. Thromb and Haemost 2014; 111: 679-684.
  • 6 Brennan SO. et al. Novel FGG variant (v339C→S) confirms importance of the ν326–339 disulphide bond for plasma expression of newly synthesised fibrinogen. Thromb Haemost 2015; 113: 903-905.
  • 7 Vu D. et al. Hypofibrinogenaemia caused by a novel FGG missense mutation (W253C) in the gamma chain globular domain impairing fibrinogen secretion. J Med Genet 2005; 42: e57.
  • 8 Brennan SO. et al. Novel ν230 Asn→Asp Substitution in fibrinogen Middlemore associated with hypofibrinogenaemia. Thromb Haemost 2005; 93: 1196-1197.
  • 9 Hanss M. et al. Four cases of hypofibrinogenemia associated with four novel mutations. J Thromb Haemost 2005; 3: 2347-2349.
  • 10 Liqinga Z. et al. Novel mutations (γTrp208Leu and γ;yLys232Thr) leading to congenital hypofibrinogenemia in two unrelated Chinese families. Blood Coagulation & Fibrinolysis 2014; 25: 894-897.