Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis

Hum Mol Genet. 2004 Oct 15;13(20):2473-82. doi: 10.1093/hmg/ddh263. Epub 2004 Aug 18.

Abstract

We report the genomic localization by homozygosity mapping and the identification of a gene for a new form of non-syndromic autosomal recessive congenital ichthyosis. The phenotype usually presents as non-bullous congenital ichthyosiform erythroderma with fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs. A few patients presented a more generalized lamellar ichthyosis. Palmoplantar keratoderma was present in all cases, whereas only 60% of the patients were born as collodion babies. Six homozygous mutations including one nonsense and five missense mutations were identified in a new gene, ichthyin, on chromosome 5q33 in 23 patients from 14 consanguineous families from Algeria, Colombia, Syria and Turkey. Ichthyin encodes a protein with several transmembrane domains which belongs to a new family of proteins of unknown function localized in the plasma membrane (PFAM: DUF803), with homologies to both transporters and G-protein coupled receptors. This family includes NIPA1, in which a mutation was recently described in a dominant form of spastic paraplegia (SPG6). We propose that ichthyin and NIPA1 are membrane receptors for ligands (trioxilins A3 and B3) from the hepoxilin pathway.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • Chromosome Mapping
  • Chromosomes, Human, Pair 5 / genetics*
  • Consanguinity
  • DNA Mutational Analysis
  • Female
  • Gene Expression
  • Haplotypes
  • Humans
  • Ichthyosiform Erythroderma, Congenital / ethnology
  • Ichthyosiform Erythroderma, Congenital / genetics*
  • Ichthyosis, Lamellar / ethnology
  • Ichthyosis, Lamellar / genetics
  • Keratoderma, Palmoplantar / ethnology
  • Keratoderma, Palmoplantar / genetics
  • Linkage Disequilibrium
  • Male
  • Molecular Sequence Data
  • Mutation / genetics*
  • Pedigree
  • Receptors, Cell Surface / genetics*
  • Receptors, G-Protein-Coupled / genetics

Substances

  • NIPAL4 protein, human
  • Receptors, Cell Surface
  • Receptors, G-Protein-Coupled

Associated data

  • GENBANK/AK024017
  • GENBANK/AK026158
  • GENBANK/AK035561
  • GENBANK/BAB14779
  • GENBANK/BAC29107
  • GENBANK/BC011775
  • RefSeq/NM_024759
  • RefSeq/NM_030922
  • RefSeq/NM_172524
  • RefSeq/NP_079035
  • RefSeq/NP_766112
  • RefSeq/XP_351633