A mutation in LIPN, encoding epidermal lipase N, causes a late-onset form of autosomal-recessive congenital ichthyosis |
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Authors: | Israeli Shirli Khamaysi Ziyad Fuchs-Telem Dana Nousbeck Janna Bergman Reuven Sarig Ofer Sprecher Eli |
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Institution: | 1Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv 64239, Israel;2Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Ramat Aviv 69978, Israel;3Department of Dermatology, Rambam Medical Center, Haifa 31096, Israel |
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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. |
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