We found a match
Your institution may have rights to this item. Sign in to continue.
- Title
Search for copy number alterations in the MEFV gene using multiplex ligation probe amplification, experience from three diagnostic centres.
- Authors
van Gijn, Marielle E.; Soler, Stéphan; de la Chapelle, Claire; Mulder, Marcel; Ritorre, Cécile; Kriek, Marjolein; Philibert, Laurent; van der Wielen, Michiel; Frenkel, Joost; Grandemange, Sylvie; Bakker, Egbert; van Amstel, Johannes K. Ploos; Touitou, Isabelle
- Abstract
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
- Subjects
FAMILIAL Mediterranean fever; GENETIC disorders; CLINICAL medicine; GENETIC mutation; DIAGNOSIS; GENES
- Publication
European Journal of Human Genetics, 2008, Vol 16, Issue 11, p1404
- ISSN
1018-4813
- Publication type
Article
- DOI
10.1038/ejhg.2008.135