title: Partially disturbed lamellar granule secretion in mild congenital ichthyosiform erythroderma with ALOX12B mutations.
abstract: 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.
authors.affiliation: Department of Dermatology, Hokkaido University Graduate School of Medicine, North 15 West 7, Kita-ku, Sapporo 060-8638, Japan. akiyama@med.hokudai.ac.jp
authors.forename: M
authors.initials: M
authors.lastname: Akiyama
authors.forename: K
authors.initials: K
authors.lastname: Sakai
authors.forename: T
authors.initials: T
authors.lastname: Yanagi
authors.forename: N
authors.initials: N
authors.lastname: Tabata
authors.forename: M
authors.initials: M
authors.lastname: Yamada
authors.forename: H
authors.initials: H
authors.lastname: Shimizu
mesh_terms: D001092:Arachidonate 12-Lipoxygenase / Q000235:genetics* / Q000378:metabolism; D003594:Cytoplasmic Granules / Q000235:genetics / Q000378:metabolism; D006801:Humans; D016113:Ichthyosiform Erythroderma, Congenital / Q000235:genetics* / Q000378:metabolism; D007231:Infant, Newborn; D008084:Lipoxygenase / Q000235:genetics* / Q000378:metabolism; D008297:Male; D009154:Mutation
chemical_list: D008084:Lipoxygenase; D001092:Arachidonate 12-Lipoxygenase; C476558:ALOX12 protein, human