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Prevalence of FLG loss‐of‐function mutations R501X, 2282del4, and R2447X in Spanish children with atopic dermatitis
Author(s) -
GonzálezTarancón Ricardo,
Sanmartín Rosalia,
Lorente Fabiola,
SalvadorRupérez Elvira,
HernándezMartín Angela,
Rello Luis,
Puzo Jose,
Gilaberte Yolanda
Publication year - 2019
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/pde.14025
Subject(s) - atopic dermatitis , filaggrin , medicine , genotyping , mutation , population , sanger sequencing , null allele , mutation frequency , genetics , dermatology , allele , gene , genotype , biology , environmental health
Background/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.