000095837 001__ 95837
000095837 005__ 20210902121608.0
000095837 0247_ $$2doi$$a10.1111/pde.14025
000095837 0248_ $$2sideral$$a115264
000095837 037__ $$aART-2020-115264
000095837 041__ $$aeng
000095837 100__ $$aGonzalez-Tarancon, Ricardo
000095837 245__ $$aPrevalence of FLG loss-of-function mutations R501X, 2282del4, and R2447X in Spanish children with atopic dermatitis
000095837 260__ $$c2020
000095837 5060_ $$aAccess copy available to the general public$$fUnrestricted
000095837 5203_ $$aBackground/Objectives Atopic dermatitis (AD) is the most prevalent inflammatory skin disorder, and is often associated with a personal or family history of atopic disease. The presence of loss-of-function mutations in the filaggrin gene (FLG) is the main predisposing factor for AD FLG mutations show ethnic and geographical variations, even between European populations. We sought to determine the frequency of the 3 most common FLG null mutations in a population of Spanish children consisting of healthy controls and AD patients. We also investigated the association between these 3 FLG mutations and AD. Methods A total of 214 participants (111 AD patients and 103 healthy controls) were enrolled in this study. Genotyping for 3 FLG null mutations (R501X, 2282del4, and R2447X) was performed by conventional Sanger sequencing. Results The combined mutation frequency was 1.9% in the control group and 12.6% in the AD group. The most common FLG mutation in AD patients was R501X (9.9%), followed by R2447X (2.7%) and 2282del4 (1.8%). Conclusion These findings further our understanding of the prevalence of FLG null mutations in the Spanish population, and suggest that the frequency of FLG mutations in AD patients in Spain is slightly higher than that of other Mediterranean countries.
000095837 540__ $$9info:eu-repo/semantics/openAccess$$aAll rights reserved$$uhttp://www.europeana.eu/rights/rr-f/
000095837 590__ $$a1.588$$b2020
000095837 591__ $$aPEDIATRICS$$b96 / 129 = 0.744$$c2020$$dQ3$$eT3
000095837 591__ $$aDERMATOLOGY$$b55 / 68 = 0.809$$c2020$$dQ4$$eT3
000095837 592__ $$a0.542$$b2020
000095837 593__ $$aPediatrics, Perinatology and Child Health$$c2020$$dQ2
000095837 593__ $$aDermatology$$c2020$$dQ2
000095837 655_4 $$ainfo:eu-repo/semantics/article$$vinfo:eu-repo/semantics/acceptedVersion
000095837 700__ $$aSanmartin, Rosalía
000095837 700__ $$aLorente, Fabiola
000095837 700__ $$aSalvador-Ruperez, Elvira
000095837 700__ $$aHernandez-Martin, Ángela
000095837 700__ $$aRello, Luis
000095837 700__ $$aPuzo, José
000095837 700__ $$0(orcid)0000-0001-8034-3617$$aGilaberte, Yolanda$$uUniversidad de Zaragoza
000095837 7102_ $$11007$$2183$$aUniversidad de Zaragoza$$bDpto. Medicina, Psiqu. y Derm.$$cÁrea Dermatología
000095837 773__ $$g37, 1 (2020), 98-102$$pPed. dermatol.$$tPediatric dermatology$$x0736-8046
000095837 8564_ $$s202146$$uhttps://zaguan.unizar.es/record/95837/files/texto_completo.pdf$$yPostprint
000095837 8564_ $$s331244$$uhttps://zaguan.unizar.es/record/95837/files/texto_completo.jpg?subformat=icon$$xicon$$yPostprint
000095837 909CO $$ooai:zaguan.unizar.es:95837$$particulos$$pdriver
000095837 951__ $$a2021-09-02-08:39:10
000095837 980__ $$aARTICLE