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

Human molecular genetics - 15 Oct 2004

Lefèvre Caroline, Bouadjar Bakar, Karaduman Aysen, Jobard Florence, Saker Safa, Ozguc Meral, Lathrop Mark, Prud'homme Jean-François, Fischer Judith

Abstract excerpt

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...

Topics

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Chromosomes, Human, Pair 5
Consanguinity
Ichthyosiform Erythroderma, Congenital
Ichthyosis, Lamellar
Keratoderma, Palmoplantar

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Linkage Disequilibrium

Receptors, Cell Surface

Receptors, G-Protein-Coupled

Source

Identifiers

PMID: 15317751
DOI: 10.1093/hmg/ddh263

Genes

NIPA1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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