Download PDFPDF

E148Q is a disease-causing MEFV mutation: a phenotypic evaluation in patients with familial Mediterranean fever
Compose Response

Plain text

  • No HTML tags allowed.
  • Web page addresses and e-mail addresses turn into links automatically.
  • Lines and paragraphs break automatically.
Author Information
First or given name, e.g. 'Peter'.
Your last, or family, name, e.g. 'MacMoody'.
Your email address, e.g.
Your role and/or occupation, e.g. 'Orthopedic Surgeon'.
Your organization or institution (if applicable), e.g. 'Royal Free Hospital'.
Statement of Competing Interests


  • Responses are moderated before posting and publication is at the absolute discretion of BMJ, however they are not peer-reviewed
  • Once published, you will not have the right to remove or edit your response. Removal or editing of responses is at BMJ's absolute discretion
  • If patients could recognise themselves, or anyone else could recognise a patient from your description, please obtain the patient's written consent to publication and send them to the editorial office before submitting your response [Patient consent forms]
  • By submitting this response you are agreeing to our full [Response terms and requirements]

Vertical Tabs

Other responses

Jump to comment:

  • Published on:
    E148Q MEFV sequence variation and familial Mediterranean fever
    • Serge Amselem, Professor of Human Genetics
    • Other Contributors:
      • Dimitri Tchernitchko, Cécile Cazeneuve

    Dear Editor,

    We read with great interest the article by Topaloglu et al (Sep. 30 issue) [1] on the implication of the E148Q sequence variation in familial Mediterranean fever (FMF). In our opinion, the best interpretation of this study is not that E148Q is a disease-causing MEFV mutation, but, rather, that this sequence variation is not involved in FMF, or more precisely that the E148Q allele is not impli...

    Show More
    Conflict of Interest:
    None declared.