Non-bullous congentital ichthyosiform erythroderma associated with homozygosity for a novel missense mutation in an ATP binding domain of ABCA12
2012 (English)In: EJD. European journal of dermatology, ISSN 1167-1122, Vol. 22, no 2, 178-181 p.Article in journal (Refereed) Published
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 have identified a large consanguineous Pakistani family affected by NCIE. Autozygosity mapping showed that affected individuals are homozygous for the ABCA12 gene region. Subsequent mutation screening revealed a homozygous c.4676G>T transition in all five affected family members. The mutation results in a novel p.G1559V substitution within the first nucleotide binding domain of ABCA12. The combined results support that an ABCA12 missense mutation, despite its location in a functional domain, may be associated with a mild ichthyosis phenotype. Furthermore, our findings increase the mutational spectrum in ABCA12 associated with ARCI of diagnostic and prognostic importance.
Place, publisher, year, edition, pages
2012. Vol. 22, no 2, 178-181 p.
Medical and Health Sciences
IdentifiersURN: urn:nbn:se:uu:diva-171260DOI: 10.1684/ejd.2011.1638ISI: 000302908700003PubMedID: 22257947OAI: oai:DiVA.org:uu-171260DiVA: diva2:510355