A mutation in LIPN, encoding epidermal lipase N, causes a late-onset form of autosomal-recessive congenital ichthyosis

Shirli Israeli; Ziyad Khamaysi; Dana Fuchs-Telem; Janna Nousbeck; Reuven Bergman; Ofer Sarig; Eli Sprecher

doi:10.1016/j.ajhg.2011.02.011

A mutation in LIPN, encoding epidermal lipase N, causes a late-onset form of autosomal-recessive congenital ichthyosis

Am J Hum Genet. 2011 Apr 8;88(4):482-7. doi: 10.1016/j.ajhg.2011.02.011.

Authors

Shirli Israeli¹, Ziyad Khamaysi, Dana Fuchs-Telem, Janna Nousbeck, Reuven Bergman, Ofer Sarig, Eli Sprecher

Affiliation

¹ Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv 64239, Israel.

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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adolescent
Base Sequence
Consanguinity
DNA Primers / genetics
Female
Genes, Recessive
Haplotypes
Homozygote
Humans
Ichthyosis / enzymology*
Ichthyosis / genetics*
Ichthyosis / pathology
Lipase / genetics*
Male
Pedigree
Polymerase Chain Reaction
Polymorphism, Restriction Fragment Length
Sequence Deletion*

Substances

DNA Primers
Lipase