Filaggrin null mutations in childhood atopic dermatitis among the Chinese

G K Ching; K-L Hon; P-C Ng; T-F Leung

doi:10.1111/j.1744-313X.2009.00859.x

Filaggrin null mutations in childhood atopic dermatitis among the Chinese

Int J Immunogenet. 2009 Aug;36(4):251-4. doi: 10.1111/j.1744-313X.2009.00859.x.

Authors

G K Ching¹, K-L Hon, P-C Ng, T-F Leung

Affiliation

¹ Department of Pediatrics, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, Hong Kong.

PMID: 19602001
DOI: 10.1111/j.1744-313X.2009.00859.x

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Adolescent
Alleles
Child
Child, Preschool
China
Dermatitis, Atopic / genetics*
Dermatitis, Atopic / immunology
Female
Filaggrin Proteins
Genetic Predisposition to Disease
Genotype
Heterozygote
Humans
Intermediate Filament Proteins / genetics*
Intermediate Filament Proteins / immunology
Male
Mutation / genetics
Polymorphism, Single Nucleotide / genetics
Polymorphism, Single Nucleotide / immunology

Substances

FLG protein, human
Filaggrin Proteins
Intermediate Filament Proteins