Comprehensive analysis of mutations in the MEFV gene reveal that the location and not the substitution type determines symptom severity in FMF

ConclusionWe found presumptive FMF‐causing mutations that did not cluster with DCMs based on their allele frequencies. We also observed that the type of mutation is less likely to determine the severity of the FMF symptoms; rather it was the location of the mutations that was the determining factor. The mutations in the MEFV gene responsible for FMF symptoms were extensively analyzed through statistical clustering and identification of nucleotide and amino acid substitution patterns. This study showed that about 8% of the reported nonsynonymous substitutions may not be of pathogenic nature due to significance difference in their allele frequencies in different populations compared to known disease‐causing mutations. Also, we found that the mutation location and not the type are responsible for symptom severity in FMF.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: Original Article Source Type: research