title: A mutation in LIPN, encoding epidermal lipase N, causes a late-onset form of autosomal-recessive congenital ichthyosis.
abstract: Autosomal-recessive congenital ichthyoses represent a large and heterogeneous group of disorders of epidermal cornification. Recent data suggest that most of these disorders might result from defective lipid transport and metabolism. In the present study, we describe a late-onset form of recessive ichthyosis in a large consanguineous pedigree. By using a combination of homozygosity mapping and positional candidate-gene screening, we identified a 2 bp deletion in LIPN that segregated with the disease phenotype throughout the family. LIPN encodes one of six acid lipases known to be involved in triglyceride metabolism in mammals . LIPN was found to be exclusively expressed in the epidermis and to be strongly induced during keratinocyte differentiation.
authors: Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv 64239, Israel.
authors: Shirli
authors: S
authors: Israeli
authors: Ziyad
authors: Z
authors: Khamaysi
authors: Dana
authors: D
authors: Fuchs-Telem
authors: Janna
authors: J
authors: Nousbeck
authors: Reuven
authors: R
authors: Bergman
authors: Ofer
authors: O
authors: Sarig
authors: Eli
authors: E
authors: Sprecher
mesh_terms: D000293:Adolescent; D001483:Base Sequence; D003241:Consanguinity; D017931:DNA Primers / Q000235:genetics; D005260:Female; D005808:Genes, Recessive; D006239:Haplotypes; D006720:Homozygote; D006801:Humans; D007057:Ichthyosis / Q000201:enzymology* / Q000235:genetics* / Q000473:pathology; D008049:Lipase / Q000235:genetics*; D008297:Male; D010375:Pedigree; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D017384:Sequence Deletion
chemical_list: D017931:DNA Primers; D008049:Lipase