Article
ABCA12 is the major harlequin ichthyosis gene.
The Journal of investigative dermatology - 1 Nov 2006
Thomas Anna C, Cullup Tom, Norgett Elizabeth E, Hill Tara, Barton Stephanie, Dale Beverly A, Sprecher Eli, Sheridan Eamonn, Taylor Aileen E, Wilroy Robert S, DeLozier Celia, Burrows Nigel, Goodyear Helen, Fleckman Philip, Stephens Karen G, Mehta Lakshmi, Watson Rosemarie M, Graham Robert, Wolf Roni, Slavotinek Anne, Martin Madelena, Bourn David, Mein Charles A, O'Toole Edel A, Kelsell David P
Abstract excerpt
Harlequin ichthyosis (HI) is the most severe form of autosomal-recessive, congenital ichthyosis. Affected infants have markedly impaired barrier function and are more susceptible to infection. Abnormalities in the localization of epidermal lipids as well as abnormal lamellar granule formation are features of HI skin. Previously, we and others have shown that mutations in the ABCA12 gene encoding an adenosine...
Topics
- ATP-Binding Cassette Transporters
- Codon, Nonsense
- DNA Mutational Analysis
- Exons
- Female
- Frameshift Mutation
- Humans
- Ichthyosis, Lamellar
- Male