Article
Non-bullous congentital ichthyosiform erythroderma associated with homozygosity for a novel missense mutation in an ATP binding domain of ABCA12.
European journal of dermatology : EJD - 1 Jan 2000
Nawaz Sadia, Tariq Muhammad, Ahmad Ilyas, Malik Naveed Altaf, Baig Shahid Mahmood, Dahl Niklas, Klar Joakim
Abstract excerpt
A Mutations in the gene encoding the ABCA12 protein are associated with different subtypes of autosomal recessive congenital ichthyosis (ARCI), including Harlequin ichthyosis (HI), lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE). Disruption of ABCA12 lead to perturbed lipid transport in lamellar granules and a defective intercellular lipid layer of the stratum corneum. We...
Topics
- ATP-Binding Cassette Transporters
- Female
- Genotype
- Homozygote
- Humans
- Ichthyosis, Lamellar
- Male
- Mutation, Missense
- Pedigree