We read with interest the comments of Zahednasab et al. and are thankful for the important
suggestions made. Molecular analysis of MEFV is a useful tool in clinical practice,
mainly in the atypical forms of the disease. However, many clinically typical FMF
patients are heterozygous or no disease-associated mutations are found [
[1]
]. Although in individuals carrying two copies of MEFV gene mutations, the gene function
can change more significantly, in large cohort studies it has been reported that heterozygous
individuals may also be affected [
[2]
]. Also of note is the finding that healthy heterozygotes for MEFV mutations appear
to have higher than normal blood levels of acute phase reactants, supporting the role
of MEFV mutation in the induction of inflammation [
[3]
].To read this article in full you will need to make a payment
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References
- The significance of paired MEFV mutations in individuals without symptoms of familial Mediterranean fever.Eur J Hum Genet. 2002; 10: 786-789
- Genotype–phenotype studies in a large cohort of Armenian patients with familial Mediterranean fever suggest clinical disease with heterozygous MEFV mutations.J Hum Genet. 2010; 55: 389-393
- Acute phase response and evolution of familial Mediterranean fever.Lancet. 1999; 353: 1415
- Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population.Am J Hum Genet. 1999 Apr; 64: 949-962
- The E148Q MEFV allele is not implicated in the development of familial Mediterranean fever.Hum Mutat. 2003; 22: 339-340
- MEFV mutation carriers and diseases other than familial Mediterranean fever: proved and non-proved associations; putative biological advantage.Curr Drug Targets Inflamm Allergy. 2005; 4: 105-112
- Evaluation of common mutations in the Mediterranean fever gene in Multiple Sclerosis patients: is it a susceptibility gene?.J Neurol Sci. 2010 Jul 15; 294: 38-42
Article info
Publication history
Published online: September 20, 2010
Accepted:
August 13,
2010
Received:
August 8,
2010
Identification
Copyright
© 2010 Elsevier B.V. Published by Elsevier Inc. All rights reserved.
