Wide spectrum of filaggrin-null mutations in atopic dermatitis highlights differences between Singaporean Chinese and European populations

Abstract

Null mutations in the filaggrin gene (FLG) cause ichthyosis vulgaris (IV) and predispose to atopic dermatitis (AD). Cohort studies in Europe and Japan have reported a FLG mutation carrier frequency between 14 and 56%, but the prevalent European FLG mutations are rare or absent in Chinese patients with IV and AD. To further investigate the spectrum of FLG-null mutations in Chinese patients and compare it with other populations, we conducted comprehensive FLG genetic analysis in a discovery cohort of 92 Singaporean Chinese individuals with IV and/or moderate-to-severe AD. All detected ...

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