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Non-bullous congentital ichthyosiform erythroderma associated with homozygosity for a novel missense mutation in an ATP binding domain of ABCA12
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2012 (English)In: EJD. European journal of dermatology, ISSN 1167-1122, E-ISSN 1952-4013, Vol. 22, no 2, 178-181 p.Article in journal (Refereed) Published
Abstract [en]

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.

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2012. Vol. 22, no 2, 178-181 p.
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Medical and Health Sciences
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URN: urn:nbn:se:uu:diva-171260DOI: 10.1684/ejd.2011.1638ISI: 000302908700003PubMedID: 22257947OAI: oai:DiVA.org:uu-171260DiVA: diva2:510355
Available from: 2012-03-15 Created: 2012-03-15 Last updated: 2017-12-07Bibliographically approved

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Dahl, NiklasKlar, Joakim

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