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dc.contributor.authorEskiocak, Ali Haydar
dc.contributor.authorMissaglia, Sara
dc.contributor.authorMoro, Laura
dc.contributor.authorDurdu, Murat
dc.contributor.authorTavian, Daniela
dc.date.accessioned2020-07-13T12:07:20Z
dc.date.available2020-07-13T12:07:20Z
dc.date.issued2019
dc.identifier.urihttps://lipidworld.biomedcentral.com/track/pdf/10.1186/s12944-019-1181-6
dc.identifier.urihttp://hdl.handle.net/11727/4757
dc.description.abstractBackground: Chanarin Dorfman Syndrome (CDS) is a rare autosomal recessive disorder characterized by the multisytemic accumulation of neutral lipids inside the cytoplasmic lipid droplets. This condition is caused by mutations in the abhydrolase domain containing 5 gene (ABHD5). In CDS the skin involvement is the prevalent and always observed clinical feature, consisting of a non-bullous congenital ichthyosiform erythroderma (NCIE). Moreover, a variable involvement of the liver and neuromuscular system can be also observed. In this report, we aimed to perform the clinical and genetic characterization of a patient affected by CDS with atypical dermatological findings, considering this rare inborn error of neutral lipid metabolism. Methods: Genomic DNA samples obtained from patient and his parents were used to perform the sequencing of the ABHD5 exons and their intron/exon boundaries. Bioinformatic analyses were performed to investigate the possible effect of the identified mutation on protein structure. Results: Here we present the case of a 29-year-old male patient with CDS, who, for long time, has been misdiagnosed as pityriasis rubra pilaris (PRP). He has a history of increasing hyperlipidemia; hepatomegaly associated with hepatosteatosis was also detected. ABHD5 molecular analysis revealed a novel missense mutation, the c.811G > A (p.G271R). Bioinformatic investigations showed that the variant has a deleterious effect on ABHD5 function, probably causing an incorrect folding of the mutant protein. Conclusions: These results highlihts the importance of genetic testing for ABHD5 in unresolved cases of patients presenting unusual skin lesions, that resemble PRP, associated with a history of hyperlipidemia and nonalcoholic fatty liver.en_US
dc.language.isoengen_US
dc.relation.isversionof10.1186/s12944-019-1181-6en_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.subjectPityriasis rubra pilarisen_US
dc.subjectHyperlipidemiaen_US
dc.titleA novel mutation of ABHD5 gene in a Chanarin Dorfman patient with unusual dermatological findingsen_US
dc.typearticleen_US
dc.relation.journalLIPIDS IN HEALTH AND DISEASEen_US
dc.identifier.volume18en_US
dc.identifier.issue1en_US
dc.identifier.wos000510492500003en_US
dc.identifier.scopus2-s2.0-85077309609en_US
dc.identifier.eissn1476-511Xen_US
dc.contributor.pubmedID31883530en_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergien_US


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