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Search for copy number alterations in the MEFV gene using multiplex ligation probe amplification, experience from three diagnostic centres. | LitMetric

AI Article Synopsis

  • * Current genetic testing primarily detects small mutations, leaving unanswered questions about the impact of larger genetic alterations on FMF.
  • * A study using multiplex ligation-dependent probe amplification (MLPA) on 216 FMF patients found no significant copy number changes in the MEFV gene, indicating that larger genetic alterations likely do not play a major role in the disease's mutation spectrum.

Article 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.

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Source
http://dx.doi.org/10.1038/ejhg.2008.135DOI Listing

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