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 Version imprimable |
Non-bullous congentital ichthyosiform erythroderma associated with homozygosity for a novel missense mutation in an ATP binding domain of
ABCA12 |
European Journal of Dermatology. Volume 22, Numéro 2, 178-81, March-April 2012, Genes and skin
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 Article gratuit
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Auteur(s) : Sadia Nawaz, Muhammad Tariq, Ilyas Ahmad, Naveed Altaf Malik, Shahid Mahmood Baig, Niklas Dahl, Joakim Klar |
Résumé : 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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