Journal
EUROPEAN JOURNAL OF HUMAN GENETICS
Volume 16, Issue 11, Pages 1404-1406Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/ejhg.2008.135
Keywords
FMF; MLPA; CNV; MEFV
Funding
- Centre Hospitalo-Universitaire de Montpellier
- French Ministry of Health
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Familial mediterranean fever (FMF) is a hereditary autoinflammatory autosomal recessive disease caused by mutations in the MEFV gene. Despite the identification of many disease associated MEFV mutations, often the clinical diagnosis cannot be genetically confirmed. The currently used diagnostic sequencing techniques only allow the detection of point mutations, small deletions or duplications. The question as to whether larger genetic alterations are also involved in the pathophysiology of FMF remains to be answered. To address this question, we used multiplex ligation-dependent probe amplification (MLPA) on a total of 216 patients with FMF symptoms. This careful analysis revealed that not a single deletion/ duplication could be detected in this large cohort of patients. This result suggests that single or multiexon MEFV gene copy number changes do not contribute substantially, if at all, to the MEFV mutation spectrum. European Journal of Human Genetics (2008) 16, 1404-1406; doi:10.1038/ejhg.2008.135; published online 23 July 2008
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