Do You think mutation as described above (C-T transversion leading to premature stop codon) can cause almost complete lack of fibrinogen in patient? Do you have experienci with patients with afibrinogenemia in whom genetic testing revealed novel mutations?
I am not a molecular biologist so do not pemrit myself to hypothesize on the first half of the question.
We worked up a patient with hypo/dysfibrinogenemia (normal thrombin time) who has a novel gamma chain mutation. The phenotype is a strong thrombophilia (first manifestation at young age, recurrent VTE at young age) combined with a concomitant FVL.
Thank You for answer Lars,
We also have patients with dysfibrinogenemia and mutations in three fibrinogen genes. Interesting, that some mutations have bleeding tendency , however another ones are presenting with thrombophilic phenotype. But patient with afibrinogenemia is also with a novel mutation in beta chain, first described mutation, named : fibrinogen Martin (we recently published in STH). What is your experience (or preliminary data) on occurence of bleeding versus thrombotic phenotype .Do you have any experience with afibrinogenemia?
Best Regards
Peter
Hi Peter.
Switzerland is renowned for many things. One of the forgotten/hidden chapters is the marriage within neighborhoods in remote mountain valleys. As a consequence we have some families with very rare diseases.
There is a generation of hematologists (now pensioned W Straub, A v Felten) who discovered a family of a/dysfibrinogenemia. This family is special as they bleed at young age and as of age 40+ they make repetive venous and arterial thromboses. I distinctly remember a farmer who would come in for acute limb ischemia, get the clot treated and go back onto his fields to work the same or next day. Very tough cookies and very down to earth...
I no longer work at the hospital in question that follows them but could try to find out the mutation
Thank You for input Lars,
I am currently in discussion with Dr.Casini and we really identified novel homozygous mutation fibrinogen Martin in exon 4 of FBG gene in the patient with congenital afibrinogenemia. Mutation presents with C>Ttransversion leading to premature stop codon. (c.538C>T, p.Gln180Stop). We also found a homozygous deletion of 4 nucleotides in intron 3 of FGA gene (rs371697849) in patient. The parents as well as two sisters were heterozygous for the novel deletion. What do you think about such mutation?
Peter
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