dc.contributor.author | Eskiocak, Ali Haydar | |
dc.contributor.author | Missaglia, Sara | |
dc.contributor.author | Moro, Laura | |
dc.contributor.author | Durdu, Murat | |
dc.contributor.author | Tavian, Daniela | |
dc.date.accessioned | 2020-07-13T12:07:20Z | |
dc.date.available | 2020-07-13T12:07:20Z | |
dc.date.issued | 2019 | |
dc.identifier.uri | https://lipidworld.biomedcentral.com/track/pdf/10.1186/s12944-019-1181-6 | |
dc.identifier.uri | http://hdl.handle.net/11727/4757 | |
dc.description.abstract | Background: 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.iso | eng | en_US |
dc.relation.isversionof | 10.1186/s12944-019-1181-6 | en_US |
dc.rights | info:eu-repo/semantics/openAccess | en_US |
dc.subject | Chanarin-Dorfman syndrome | en_US |
dc.subject | Ichthyosis | en_US |
dc.subject | Lipid disorder | en_US |
dc.subject | Liver involvement | en_US |
dc.subject | Pityriasis rubra pilaris | en_US |
dc.subject | Hyperlipidemia | en_US |
dc.title | A novel mutation of ABHD5 gene in a Chanarin Dorfman patient with unusual dermatological findings | en_US |
dc.type | article | en_US |
dc.relation.journal | LIPIDS IN HEALTH AND DISEASE | en_US |
dc.identifier.volume | 18 | en_US |
dc.identifier.issue | 1 | en_US |
dc.identifier.wos | 000510492500003 | en_US |
dc.identifier.scopus | 2-s2.0-85077309609 | en_US |
dc.identifier.eissn | 1476-511X | en_US |
dc.contributor.pubmedID | 31883530 | en_US |
dc.relation.publicationcategory | Makale - Uluslararası Hakemli Dergi | en_US |