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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.

journal_name

Am J Hum Genet

journal_title

American journal of human genetics

authors

Israeli S,Khamaysi Z,Fuchs-Telem D,Nousbeck J,Bergman R,Sarig O,Sprecher E

doi

10.1016/j.ajhg.2011.02.011

subject

Has Abstract

pub_date

2011-04-08 00:00:00

pages

482-7

issue

4

eissn

0002-9297

issn

1537-6605

pii

S0002-9297(11)00059-0

journal_volume

88

pub_type

杂志文章

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