A case of familial partial lipodystrophy caused by a novel lamin A/C (LMNA) mutation in exon 1 (D47N)

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dc.contributor.authorKutbay N.O.
dc.contributor.authorYurekli B.S.
dc.contributor.authorOnay H.
dc.contributor.authorAltay C.T.
dc.contributor.authorAtik T.
dc.contributor.authorHekimsoy Z.
dc.contributor.authorSaygili F.
dc.contributor.authorAkinci B.
dc.date.accessioned2019-10-27T08:20:39Z
dc.date.available2019-10-27T08:20:39Z
dc.date.issued2016
dc.departmentEge Üniversitesien_US
dc.description.abstractBackground Familial partial lipodystrophy (FPL) is a rare genetic disorder characterized by selective lack of subcutaneous fat which is associated with insulin resistant diabetes. The Dunnigan variety (FPL2) is caused by several missense mutations in the lamin A/C (LMNA) gene, most of which are typically located in exon 8 at the codon position 482. Case report Here, we report on a Turkish family with FPL2 which is caused by a novel heterozygous missense LMNA mutation in exon 1 (D47N, c.139G > A), in the rod domain of lamins A/C. Fat distribution and metabolic features of LMNA D47N mutation were similar to typical codon 482 mutation. Metabolic abnormalities were observed as a form of insulin resistant diabetes, hypertriglyceridemia, low HDL cholesterol and hepatic steatosis. There was no evidence for neuromuscular and cardiac involvement. Conclusion Although it is previously known that alterations in the rod domain of type A lamins are involved in cardiac and neuromuscular diseases, our current observation shows that exon 1 LMNA mutations may be associated with partial lipodystrophy without any cardiac and neurological abnormalities, at least at the time of the presentation. © 2015 European Federation of Internal Medicine.en_US
dc.identifier.doi10.1016/j.ejim.2015.12.012en_US
dc.identifier.endpage39en_US
dc.identifier.issn0953-6205
dc.identifier.pmid26775134en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.startpage37en_US
dc.identifier.urihttps://doi.org/10.1016/j.ejim.2015.12.012
dc.identifier.urihttps://hdl.handle.net/11454/25747
dc.identifier.volume29en_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherElsevier B.V.en_US
dc.relation.ispartofEuropean Journal of Internal Medicineen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectDiabetesen_US
dc.subjectInsulin resistanceen_US
dc.subjectLipodystrophyen_US
dc.subjectLMNAen_US
dc.titleA case of familial partial lipodystrophy caused by a novel lamin A/C (LMNA) mutation in exon 1 (D47N)en_US
dc.typeArticleen_US

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