Molecular analysis in X-linked adrenoleukodystrophy patients: identification of a novel mutation

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dc.contributor.authorDurmaz, Asude
dc.contributor.authorAtik, Tahir
dc.contributor.authorOnay, Huseyin
dc.contributor.authorCanda, Ebru Erbas
dc.contributor.authorUcar, Sema Kalkan
dc.contributor.authorBademkiran, Fikret
dc.contributor.authorCoker, Mahmut
dc.contributor.authorCogulu, Ozgur
dc.contributor.authorÖzkınay, Ferda
dc.date.accessioned2019-10-27T22:13:28Z
dc.date.available2019-10-27T22:13:28Z
dc.date.issued2014
dc.departmentEge Üniversitesien_US
dc.description.abstractX linked adrenoleukodystrophy (X-ALD) is a neurodegenerative disease characterized by progressive demyelination of the central nervous system, adrenocortical insufficiency and elevated levels of very long chain fatty acids (VLCFAs). It is caused by mutations in ABCD1 gene located at Xq28. More than 1,300 mutations have been identified to date which is unique to each patient. In this study we report the mutational analysis of 2 X-ALD patients (1 male and 1 female) showing variable clinical spectrum. The mutation analysis of the female patient revealed IVS5-6delC (c.1489-6delC) and p. P543L variations in compound heterozygous state. The male patient was found to be hemizygous for a novel mutation, p. R104P. In conclusion, while defining a novel mutation, the cases presented herein may contribute to the mutation and clinical spectrum of X-ALD.en_US
dc.identifier.doi10.1007/s11011-014-9552-1en_US
dc.identifier.endpage812en_US
dc.identifier.issn0885-7490
dc.identifier.issn1573-7365
dc.identifier.issue3en_US
dc.identifier.pmid24788897en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.startpage809en_US
dc.identifier.urihttps://doi.org/10.1007/s11011-014-9552-1
dc.identifier.urihttps://hdl.handle.net/11454/49798
dc.identifier.volume29en_US
dc.identifier.wosWOS:000340492600028en_US
dc.identifier.wosqualityQ3en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherSpringer/Plenum Publishersen_US
dc.relation.ispartofMetabolic Brain Diseaseen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectX-ALDen_US
dc.subjectABCD1 geneen_US
dc.subjectNovel mutationen_US
dc.titleMolecular analysis in X-linked adrenoleukodystrophy patients: identification of a novel mutationen_US
dc.typeArticleen_US

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