March 15, 2014

South African amaXhosa patients with atopic dermatitis have decreased levels of filaggrin breakdown products but no loss-of-function mutations in filaggrin

J Allergy Clin Immunol. Jan 2014; 133(1): 280–282.e2.
PMCID: PMC3884121

South African amaXhosa patients with atopic dermatitis have decreased levels of filaggrin breakdown products but no loss-of-function mutations in filaggrin[star]

Fatemah Thawer-Esmail, MD, FCDermSA,a Ivone Jakasa, PhD,b Gail Todd, FFDerm (SA), PhD,c Yaran Wen, PhD,cSara J. Brown, MD,c Karin Kroboth, MSc,c Linda E. Campbell, BSc,c Grainne M. O'Regan, MRCPI,d W.H. Irwin McLean, DSc, FMedSci,c Alan D. Irvine, MD,d,e,f Sanja Kezic, PhD,g and Aileen Sandilands, PhDc
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To the Editor:
Loss-of-function (LOF) mutations in the filaggrin gene (FLG) are the strongest known genetic risk factors for atopic dermatitis (AD). The genetic architecture of FLG mutations is well established in European, Japanese, and selected Chinese populations, but their contribution to AD in African populations is not well understood. The only data on FLG mutations in Africans come from a recent study conducted in Ethiopia that studied 103 patients with AD, 7 patients with ichthyosis vulgaris (IV), and 103 healthy controls. This study identified only a single novel mutation (a 2-bp deletion, 632del2), by direct sequencing of FLG in a patient with AD....

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