Morfeia generalizada em uma criança com ictiose arlequim, uma associação rara

Giacomin, Maria Fernanda A.; França, Camila M.P.; Oliveira, Zilda Najjar Prado de; Machado, Maria C.R.; Sallum, Adriana Maluf Elias; Silva, Clóvis A.

doi:10.1016/j.rbr.2014.05.004

Cited by 3 publications

(1 citation statement)

References 17 publications

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“…This gene regulates sphingolipid synthesis and is involved in the synthesis of ceramides with ultra-long-chain acyl moieties (ULC-Cers), playing an important role in creating a barrier for the epidermis from the environment [ 44 ]. A mutation in CERS3 is responsible of autosomal recessive congenital ichthyosis [ 45 ], and interestingly, scleroderma-like changes have been described in different clinical variants of ichthyosis [ 46 ]. All these data are of particular interest as WS has some features that are typical SSc signs like skin sclerosis and calcification and ankle ulcerations [ 47 , 48 ].…”

Section: Discussionmentioning

confidence: 99%

Genome-wide DNA methylation analysis in blood cells from patients with Werner syndrome

et al. 2017

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BackgroundWerner syndrome is a progeroid disorder characterized by premature age-related phenotypes. Although it is well established that autosomal recessive mutations in the WRN gene is responsible for Werner syndrome, the molecular alterations that lead to disease phenotype remain still unidentified.ResultsTo address whether epigenetic changes can be associated with Werner syndrome phenotype, we analysed genome-wide DNA methylation profile using the Infinium MethylationEPIC BeadChip in the whole blood from three patients affected by Werner syndrome compared with three age- and sex-matched healthy controls. Hypermethylated probes were enriched in glycosphingolipid biosynthesis, FoxO signalling and insulin signalling pathways, while hypomethylated probes were enriched in PI3K-Akt signalling and focal adhesion pathways. Twenty-two out of 47 of the differentially methylated genes belonging to the enriched pathways resulted differentially expressed in a publicly available dataset on Werner syndrome fibroblasts. Interestingly, differentially methylated regions identified CERS1 and CERS3, two members of the ceramide synthase family. Moreover, we found differentially methylated probes within ITGA9 and ADAM12 genes, whose methylation is altered in systemic sclerosis, and within the PRDM8 gene, whose methylation is affected in dyskeratosis congenita and Down syndrome.ConclusionsDNA methylation changes in the peripheral blood from Werner syndrome patients provide new insight in the pathogenesis of the disease, highlighting in some cases a functional correlation of gene expression and methylation status.Electronic supplementary materialThe online version of this article (doi:10.1186/s13148-017-0389-4) contains supplementary material, which is available to authorized users.

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