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Article Dans Une Revue Molecular Genetics and Genomic Medicine Année : 2017

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

Sébastien Cabasson
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Pascal Pillet
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Résumé

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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Dates et versions

hal-01767733 , version 1 (27-01-2021)

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Sylvie Grandemange, Sébastien Cabasson, Guillaume Sarrabay, Jérôme Pène, Cécile Rittore, et al.. Clinical dose effect and functional consequences of R92Q in two families presenting with a TRAPS/PFAPA-like phenotype. Molecular Genetics and Genomic Medicine, 2017, 5 (2), pp.110 - 116. ⟨10.1002/mgg3.229⟩. ⟨hal-01767733⟩
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