Peer-reviewed · International Journal of Molecular Sciences · 2026
Description of a Large Family with Periodic Fever Carrying a Variant in RXFP1 Gene: A Possible Novel Modulator of Inflammation in Autoinflammatory Diseases
The study describes a three-generation family with a PFAPA-like recurrent fever syndrome inherited in an autosomal dominant pattern. Whole-exome sequencing identified a rare, damaging RXFP1 variant that co-segregated with the disease, linking relaxin signalling to hereditary recurrent fever for the first time.
Buttarelli et al.
The study describes a three-generation family with a PFAPA-like recurrent fever syndrome inherited in an autosomal dominant pattern. Whole-exome sequencing identified a rare, damaging RXFP1 variant that co-segregated with the disease, linking relaxin signalling to hereditary recurrent fever for the first time.
Dante Labs’ involvement
Dante Labs carried out the whole-exome sequencing for this study at our facility in L'Aquila, Italy, for two distantly related affected family members (individuals I2 and IV2). Sequencing achieved an average depth of ≥100×. The resulting FASTQ data were analysed by the research team using standard workflows on the Galaxy platform; Dante Labs' role was the sequencing itself, with variant filtering, segregation analysis and interpretation carried out by the authors.
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