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Localized guttate psoriasis in a patient with erythema migrans
Author(s) -
Roos K.P.,
Neumann H.A.M.
Publication year - 2014
Publication title -
journal of the european academy of dermatology and venereology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.655
H-Index - 107
eISSN - 1468-3083
pISSN - 0926-9959
DOI - 10.1111/jdv.12382
Subject(s) - dermatology , medicine , von neumann architecture , erythema migrans , psoriasis , family medicine , lyme borreliosis , computer science , immunology , borrelia burgdorferi , antibody , operating system
motif and one ADEAMc (tRNA-specific and double-stranded RNA adenosine deaminase domain). Gene with nonsense or frameshift mutations could induce a premature translation termination codon and further translate into a truncated protein, which might be degradated by nonsense-mediated mRNA decay (NMD) and result in haploinsufficiency or not be degradated but become harmful to affect the normal function. Reviewing the reported studies about DSH, there were only five cases with five different frameshift mutations presented abnormal macules on knees. Liu et al. stated that individual with similar clinical phenotype as we reported carrying c.1555delT (p.C519fsX523) mutation showed an approximately 50% reduction in the ADAR1 mRNA expression by sequencing of cDNA fragments and the ADAR1 expression by the RT-PCR. It was suggested that the frameshift c.1555delT mutation had generated null alleles probably by NMD, and then caused the ADAR1 haploinsufficiency. Therefore, we speculate that the novel nonsense mutation we found, c.1479C>G (p.Y493X) in exon 2, which led to a truncated ADAR1, resulted in NMD, further reduced the ADAR1 expression. The ADAR1 haploinsufficiency might be responsible for more severe clinical symptoms in DSH patients. However, we could not confirm the above point because of the lack of the patient’s skin tissue sample, and more related patients need to be enrolled in this study to verify the point. In conclusion, our results showed a novel mutation and provided a significant addition to the DSH mutation database. The mutations leading to a truncated ADAR1 in DSH patient might be apt to suffer more serious skin lesions due to the ADAR1 -haploinsufficiency. This finding could be a great help for future clinical genetic counselling.