Alternative name(s) :
Gene_locus : human-LIPN
Mutation : 1 mutation E133DfsX3_human-LIPN
Comment
A mutation in LIPN, encoding epidermal lipase N (2 bp deletion results in the generation of a stop codon 2 aminoacids downstream of the mutation E133D), causes a late-onset form of autosomal-recessive congenital ichthyosis. Autosomal recessive congenital ichthyosis (ARCI) represents a heterogeneous group of rare disorders of cornification with 3 major subtypes: harlequin ichthyosis (HI), lamellar ichthyosis (LI) and congenital ichthyosiform erythroderma (CIE). A 4th subtype has also been proposed: pleomorphic ichthyosis (PI) Genes known to cause ARCI are: TGM1, ABCA12, ALOXE3, ALOX12B, NIPAL4, CYP4F22, PNPLA1, LIPN, and CERS3| Title : Non-syndromic autosomal recessive congenital ichthyosis in the Israeli population - Israeli_2013_Clin.Exp.Dermatol_38_911 |
| Author(s) : Israeli S , Goldberg I , Fuchs-Telem D , Bergman R , Indelman M , Bitterman-Deutsch O , Harel A , Mashiach Y , Sarig O , Sprecher E |
| Ref : Clinical & Experimental Dermatologyatol , 38 :911 , 2013 |
| Abstract : Israeli_2013_Clin.Exp.Dermatol_38_911 |
| ESTHER : Israeli_2013_Clin.Exp.Dermatol_38_911 |
| PubMedSearch : Israeli_2013_Clin.Exp.Dermatol_38_911 |
| PubMedID: 23621129 |
| Title : A mutation in LIPN, encoding epidermal lipase N, causes a late-onset form of autosomal-recessive congenital ichthyosis - Israeli_2011_Am.J.Hum.Genet_88_482 |
| Author(s) : Israeli S , Khamaysi Z , Fuchs-Telem D , Nousbeck J , Bergman R , Sarig O , Sprecher E |
| Ref : American Journal of Human Genetics , 88 :482 , 2011 |
| Abstract : Israeli_2011_Am.J.Hum.Genet_88_482 |
| ESTHER : Israeli_2011_Am.J.Hum.Genet_88_482 |
| PubMedSearch : Israeli_2011_Am.J.Hum.Genet_88_482 |
| PubMedID: 21439540 |
| Gene_locus related to this paper: human-LIPN |