title: Filaggrin null mutations in childhood atopic dermatitis among the Chinese.
abstract: 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.
authors: Department of Pediatrics, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, Hong Kong.
authors: G K
authors: GK
authors: Ching
authors: K-L
authors: KL
authors: Hon
authors: P-C
authors: PC
authors: Ng
authors: T-F
authors: TF
authors: Leung
mesh_terms: D000293:Adolescent; D000483:Alleles; D002648:Child; D002675:Child, Preschool; D002681:China; D003876:Dermatitis, Atopic / Q000235:genetics* / Q000276:immunology; D005260:Female; D000091344:Filaggrin Proteins; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D007381:Intermediate Filament Proteins / Q000235:genetics* / Q000276:immunology; D008297:Male; D009154:Mutation / Q000235:genetics; D020641:Polymorphism, Single Nucleotide / Q000235:genetics / Q000276:immunology
chemical_list: C000717249:FLG protein, human; D000091344:Filaggrin Proteins; D007381:Intermediate Filament Proteins