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Scientific article
English

Analysis of the genetic basis of periodic fever with aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome

Contributors

Di Gioia, Silvio Alessandro; Bedoni, Nicola; von Scheven-Gête, Annette; Vanoni, Federica; Superti-Furga, Andrea; Hofer, Michael; Rivolta, Carlo

Published in

Scientific reports, vol. 5, 10200

Publication date

2015

Abstract

PFAPA syndrome is the most common autoinflammatory syndrome in children from Western countries. In spite of its strong familial clustering, its genetic basis and inheritance pattern are still unknown. We performed a comprehensive genetic study on 68 individuals from 14 families. Linkage analysis suggested a susceptibility locus on chromosome 8, but direct molecular sequencing did not support this initial statistical finding. Exome sequencing revealed the absence of any gene that was mutated in all patients. Exhaustive screening of genes involved in other autoinflammatory syndromes or encoding components of the human inflammasome showed no DNA variants that could be linked to PFAPA molecular pathology. Among these, the previously-reported missense mutation V198M in the NLRP3 gene was clearly shown not to co-segregate with PFAPA. Our results on this relatively large cohort indicate that PFAPA syndrome is unlikely to be a monogenic condition. Moreover, none of the several genes known to be involved in inflammation or in autoinflammatory disorders seem to be relevant, alone, to its etiology, suggesting that PFAPA results from oligogenic or complex inheritance of variants in multiple disease genes and/or non-genetic factors.

UNIGE affiliation entities

Citation (ISO format)

DI GIOIA, Silvio Alessandro et al. Analysis of the genetic basis of periodic fever with aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome. In: Scientific reports, 2015, vol. 5, p. 10200. doi: 10.1038/srep10200

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Article (Published version)

Identifiers

Journal ISSN

2045-2322
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Technical informations

Creation

16/09/2015 10:47:00

First validation

16/09/2015 10:47:00

Update

14/03/2023 23:43:56

Status update

14/03/2023 23:43:55

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