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Clinical dose effect and functional consequences of R92Q in two families presenting with a TRAPS/PFAPA-like phenotype
Journal article   Open access   Peer reviewed

Clinical dose effect and functional consequences of R92Q in two families presenting with a TRAPS/PFAPA-like phenotype

Sylvie Grandemange, Sébastien Cabasson, Guillaume Sarrabay, Jérôme Pène, Cécile Rittore, Elodie Sanchez, Marie-Caroline Chastang, Gaël Guyon, Pascal Pillet and Isabelle Touitou
Molecular Genetics and Genomic Medicine, Vol.5(2), pp.110 - 116
03/2017
DOI: https://doi.org/10.1002/mgg3.229
PMCID: PMC5370222
PMID: 28361096

Abstract

Clinical dose effect R92Q TNFRSF1A TRAPS recessive
TNF receptor-associated syndrome (TRAPS) is a dominantly inherited autoinflammatory condition caused by mutations in the TNFRSF1A gene. The mechanism underlying the variable expressivity of the common variant R92Q (rs4149584; c.362G>A; p.Arg121Gln) is unclear and is of critical importance for patient care and genetic counseling. This study evaluated the impact of the number of R92Q mutations in two unique unrelated families.
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