Access

Letter

Nature Genetics 38, 337–342 (1 March 2006) | doi:10.1038/ng1743

Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris

Frances J D Smith , Alan D Irvine , Ana Terron-Kwiatkowski , Aileen Sandilands , Linda E Campbell , Yiwei Zhao , Haihui Liao , Alan T Evans , David R Goudie , Sue Lewis-Jones , Gehan Arseculeratne , Colin S Munro , Ann Sergeant , Gr|[aacute]|inne O'Regan , Sherri J Bale , John G Compton , John J DiGiovanna , Richard B Presland , Philip Fleckman & W H Irwin McLean

Ichthyosis vulgaris (OMIM 146700) is the most common inherited disorder of keratinization and one of the most frequent single-gene disorders in humans. The most widely cited incidence figure is 1 in 250 based on a survey of 6,051 healthy English schoolchildren.