Search for copy number alterations in the MEFV gene using multiplex ligation probe amplification, experience from three diagnostic centres.
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.
van Gijn
Marielle E
ME
DBG Department of Medical Genetics, UMC Utrecht, The Netherlands. m.e.vangijn@umcutrecht.nl
Soler
Stéphan
S
de la Chapelle
Claire
C
Mulder
Marcel
M
Ritorre
Cécile
C
Kriek
Marjolein
M
Philibert
Laurent
L
van der Wielen
Michiel
M
Frenkel
Joost
J
Grandemange
Sylvie
S
Bakker
Egbert
E
Ploos van Amstel
Johannes K
JK
Touitou
Isabelle
I
D015331:Cohort Studies; D003598:Cytoskeletal Proteins / Q000235:genetics*; D010505:Familial Mediterranean Fever / Q000235:genetics*; D005260:Female; D006801:Humans; D022521:Ligase Chain Reaction; D008297:Male; D017354:Point Mutation; D000071198:Pyrin
D003598:Cytoskeletal Proteins; C000604192:MEFV protein, human; D000071198:Pyrin