- Poster presentation
- Open Access
Impact of MEFV genotype in Caucasian children with periodic fever
© Federici et al; licensee BioMed Central Ltd. 2011
- Published: 14 September 2011
- Cervical Lymph Node
- Negative Patient
- Caucasian Patient
- Autosomal Recessive Disorder
Despite FMF is considered an autosomal recessive disease caused by mutations of MEFV, one third of patients carries one mutation only.
To analyze the actual impact of MEFV mutations in children with periodic fever.
113 caucasian patients carrying MEFV mutations (46 with mutations in two alleles, 67 heterozygous) and 205 genetically negative patients for MEFV, TNFSF1A and MEFV (70% with a PFAPA phenotype) were analyzed. The following groups were considerd: patients with: i) 2 high penetrance mutations (M694V, M694I, M680I), ii) 1 high, 1 low penetrance mutation, iii) 2 low penetrance mutations, iv) 1 high penetrance mutation, v) one low penetrance mutation, vi) genetically negative.
The present study shows a dosage effect of MEFV mutations not consistent with a pure autosomal recessive disorder. A dominant negative or gain of function effects or variants of still unidentified modifier genes may influence the presence of a FMF phenotype in heterozygous patients.
This article is published under license to BioMed Central Ltd. This is an open access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.