Article
Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris.
Nature genetics - 1 Mar 2006
Smith Frances J D, Irvine Alan D, Terron-Kwiatkowski Ana, Sandilands Aileen, Campbell Linda E, Zhao Yiwei, Liao Haihui, Evans Alan T, Goudie David R, Lewis-Jones Sue, Arseculeratne Gehan, Munro Colin S, Sergeant Ann, O'Regan Gráinne, Bale Sherri J, Compton John G, DiGiovanna John J, Presland Richard B, Fleckman Philip, McLean W H Irwin
Abstract excerpt
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. We have identified homozygous or compound heterozygous mutations R501X and 2282del4 in the gene encoding filaggrin (FLG) as the cause of moderate or...
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