Clinical and genetic characterization of a Chanarin Dorfman Syndrome patient born to diseased parents

dc.contributor.authorDurdu, Murat
dc.contributor.authorMissaglia, Sara
dc.contributor.authorMoro, Laura
dc.contributor.authorTavian, Dainela
dc.contributor.orcID0000-0003-1247-3932en_US
dc.contributor.pubmedID29843625en_US
dc.contributor.researcherIDH-9068-2019en_US
dc.date.accessioned2019-05-08T12:09:20Z
dc.date.available2019-05-08T12:09:20Z
dc.date.issued2018
dc.description.abstractBackground: Chanarin Dorfman Syndrome (CDS) is a rare autosomal recessive disorder characterized by ichthyosiform non-bullous erythroderma and variable involvement of the liver and the neuromuscular system. In CDS patients, the accumulation of neutral lipids inside cytoplasmic lipid droplets has been demonstrated in different tissues. To date, ninety families with this disease have been described worldwide; most of them are from Mediterranean countries. Case presentation: In this report, we describe a consanguineous Turkish family with typical features of CDS. The parents are first cousins and are both diseased. At the age of eight, their child presented CDS with non-bullous congenital ichthyosiform erythroderma, hepatosteatosis, hepatomegaly and ectropion. Electromyographic examination is compatible with myopathy. A five-year-old cousin of the child is also affected by CDS. She was born to non-affected consanguineous parents. Mutation analysis of the ABHD5 gene revealed the previously reported mutation, N209X, which is the most frequent in Turkish patients. Lipid vacuoles, also known as Jordan's anomaly, are detectable in their leucocytes. Conclusions: To the best of our knowledge, this is the first report of a CDS family in which both parents and their child are affected by CDS. To date, the child does not present a more severe clinical phenotype compared with those of his relatives or other CDS patients of the same age. These findings suggest that high levels of triacylglycerol accumulation, that may be supposed to be present in high amount inside the ooplasm, did not affect embryo development and foetal growth.en_US
dc.identifier.issn1471-2350
dc.identifier.issn1471-2350
dc.identifier.scopus2-s2.0-85047765419en_US
dc.identifier.urihttps://bmcmedgenet.biomedcentral.com/track/pdf/10.1186/s12881-018-0610-0
dc.identifier.urihttp://hdl.handle.net/11727/3244
dc.identifier.volume19en_US
dc.identifier.wos000434074100001en_US
dc.language.isoengen_US
dc.relation.isversionof10.1186/s12881-018-0610-0en_US
dc.relation.journalBMC MEDICAL GENETICSen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergien_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectChanarin-Dorfman Syndromeen_US
dc.subjectIchthyosisen_US
dc.subjectLipid disorderen_US
dc.subjectLiver involvementen_US
dc.subjectMyopathyen_US
dc.titleClinical and genetic characterization of a Chanarin Dorfman Syndrome patient born to diseased parentsen_US
dc.typearticleen_US

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