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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Partially disturbed lamellar granule secretion in mild congenital ichthyosiform erythroderma with ALOX12B mutations.

Congenital ichthyosiform erythroderma (CIE) (OMIM 242100) is a major type of autosomal recessive congenital ichthyosis (ARCI) showing generalized scaling and erythroderma without blister formation. Mutations in ALOX12B (OMIM 603741), encoding 12R-lipoxygenase (LOX), were identified in patients with CIE in 2002. To date, several ALOX12B mutations have been reported in CIE families. LOXs are a family of nonhaem, iron-containing dioxygenases which catalyse dioxygenation of fatty acids with one or more (Z,Z)-1,4-pentadiene moieties. Three members of the human LOX family, 15-LOX-2, 12R-LOX and eLOX-3, are preferentially expressed in the skin. The 12R-LOX pathway leads to hepoxilin B3 and trioxilin B3 resulting in 20-carboxy-trioxilin A3, which is thought to be a key biological regulator in the skin. 12R-LOX deficiency results in a CIE phenotype in humans and in mice. We report that a Japanese patient with CIE, harbouring one previously unreported ALOX12B mutation p.Arg442Gln and another known mutation p.Arg432X, showed partially disturbed secretion of lamellar granule (LG) contents in the epidermis.[1]

References

  1. Partially disturbed lamellar granule secretion in mild congenital ichthyosiform erythroderma with ALOX12B mutations. Akiyama, M., Sakai, K., Yanagi, T., Tabata, N., Yamada, M., Shimizu, H. Br. J. Dermatol. (2010) [Pubmed]
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