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Letter

Nature Genetics 39, 650–654 (1 May 2007) | doi:10.1038/ng2020

Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema

Aileen Sandilands , Ana Terron-Kwiatkowski , Peter R Hull , Gr|[aacute]|inne M O'Regan , Timothy H Clayton , Rosemarie M Watson , Thomas Carrick , Alan T Evans , Haihui Liao , Yiwei Zhao , Linda E Campbell , Matthias Schmuth , Robert Gruber , Andreas R Janecke , Peter M Elias , Maurice A M van Steensel , Ivo Nagtzaam , Michel van Geel , Peter M Steijlen , Colin S Munro , Daniel G Bradley , Colin N A Palmer , Frances J D Smith , W H Irwin McLean & Alan D Irvine

We recently reported two common filaggrin (FLG) null mutations that cause ichthyosis vulgaris and predispose to eczema and secondary allergic diseases. We show here that these common European mutations are ancestral variants carried on conserved haplotypes.