M. Lidar1, Y. Brantz2, Y. Shinar3, H. Reznik-Wolf4, A. Livneh5, I. Ben Zvi6, R. Cohen7, Y. Berkun8, P. Hashkes9, H. Peleg10, A. Kessel11, G. Slobodin12, M. Rozenbaum13, O. Goldzweig14, E. Pras15
2017 Vol.35, N°6 ,Suppl.108 - PI 0082, PF 0085
Cryopyrin associated periodic syndromes (CAPS) comprise a spectrum of autoinflammatory disorders of varying severity caused by mutations in the NLRP3 gene. The NLRP3-Q703K allele has been reported both as a functional polymorphism and as a low penetrance mutation.
To describe the clinical phenotype of subjects with the Q703K allele and to report the frequency of this allele among patients with autoinflammatory symptoms and healthy controls. To this end, a cohort of 10 ethnically-matched controls per each Q703K-carrying patient, was composed.
Ninety patients suspected of harboring a systemic autoinflammatory disease (SAID), exclusive of FMF, were referred to our center for genotyping between 2012 and 2015. Fourteen of them (15.5%) were found to carry the Q703K allele, compared to 22 of 130 (16.9%) healthy, ethnically matched controls.
The similar carrier rate of the NLRP3-Q703K allele among patients with manifestations of a SAID and an ethnically matched control group suggest that this variant, does not determine the clinical phenotype. This reiterates the importance of testing a control group to avoid erroneously attributing a causative role to a gene polymorphism.
PMID: 29148409 [PubMed]
Received: 12/03/2017 - Accepted : 08/09/2017 - In Press: 06/10/2017 - Published: 27/11/2017