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Filaggrin null mutations in childhood atopic dermatitis among the Chinese
Author(s) -
Ching G. K.,
Hon KL.,
Ng PC.,
Leung TF.
Publication year - 2009
Publication title -
international journal of immunogenetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.41
H-Index - 47
eISSN - 1744-313X
pISSN - 1744-3121
DOI - 10.1111/j.1744-313x.2009.00859.x
Subject(s) - filaggrin , atopic dermatitis
Summary Atopic dermatitis (AD) is associated with loss or reduced expression of filaggrin ( FLG ). We evaluated five FLG null mutations, namely R501X, 2282del4, R2447X, S2554X, and S2889X, in 174 Chinese children with AD and 191 matched controls. 2282del4, R2447X, S2554X and S2889X mutations were not found in these patients. Heterozygous carriage of R501X was only found in four male patients, and associated with long‐term disease severity. FLG mutations prevalent in Caucasian and other Asian populations are rarely found in our series.