Autoinflammatory & rare systemic diseases
Investigation of different genomic variants in familial Mediterranean fever cases with monoallelic MEFV mutation
Authors' conclusion
We have shown that genotype-phenotype correlation in these cases may not be established by rare genetic variants and discussed underlying causes.
Study context
- Population
- Individuals from families with Familial Mediterranean Fever (FMF) diagnosed by clinical criteria, responsive to colchicine, without biallelic MEFV mutation5 families
- Participants
- 17 individuals
- Outcome
- Rare variants acting in conjunction with the single pathogenic MEFV variant in FMF pathogenesis
Methodological detailswhole exome sequencing, family-based
- Whole exome sequencing
- Family-based
Main finding
As reported in the abstract
- Two de novo variants identified in BIRC2 and BCL10 genes (inflammatory pathways) on individual case review
- 2
Original publication
Investigation of different genomic variants in familial Mediterranean fever cases with monoallelic MEFV mutation. Clin Exp Rheumatol. Published 8 November 2022. doi:10.
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