DNAJC6 is responsible for juvenile parkinsonism with phenotypic variability

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dc.contributor.authorKoroglu, Cigdem
dc.contributor.authorBaysal, Leyla
dc.contributor.authorCetinkaya, Murat
dc.contributor.authorKarasoy, Hatice
dc.contributor.authorTolun, Aslihan
dc.date.accessioned2019-10-27T21:52:58Z
dc.date.available2019-10-27T21:52:58Z
dc.date.issued2013
dc.departmentEge Üniversitesien_US
dc.description.abstractFamilial parkinson's disease is both clinically and genetically heterogeneous. By mapping the disease locus with a lod score of 5.13 to a < 3.5 Mbp region at 1p31.3 in a consanguineous family and subsequent exome sequencing analysis, we identified homozygous truncating mutation p.Q734X in DNAJC6. Four members of the family were afflicted with juvenile parkinsonism that presented with mental retardation, pyramidal signs and epilepsy, as well as varying degrees of a progressive neurological disease. Recently a splicing mutation in the same gene was reported in two brothers with juvenile parkinsonism that was not L-Dopa responsive and not accompanied by pyramidal signs or mental retardation. Also, an 80-kb deletion that included DNAJC6 sequences was identified in a boy reported as having obesity, epilepsy and mental retardation but not any signs of parkinsonism. The phenotype of our study family resembles both of those families, which among themselves do not share any clinical features. Our findings further establish DNAJC6 as a juvenile parkinsonism gene, and expand the spectrums of the parkinsonism phenotype and DNAJC6 mutation. DNAJC6 encodes the neuronal co-chaperone auxilin. We found that its transcript is highly significantly more abundant in brain as compared to the non-neural tissues assayed. (C) 2012 Elsevier Ltd. All rights reserved.en_US
dc.description.sponsorshipBogazici University Research FundBogazici University [5708, 5186]en_US
dc.description.sponsorshipWe thank the family for participating in the study. We gratefully acknowledge the microsatellite genome scan performed by NHLBI Mammalian Genotyping Service (Contract Number HV48141). This work was supported by Bogazici University Research Fund (5708 and 5186).en_US
dc.identifier.doi10.1016/j.parkreldis.2012.11.006en_US
dc.identifier.endpage324en_US
dc.identifier.issn1353-8020
dc.identifier.issue3en_US
dc.identifier.pmid23211418en_US
dc.identifier.scopusqualityQ1en_US
dc.identifier.startpage320en_US
dc.identifier.urihttps://doi.org/10.1016/j.parkreldis.2012.11.006
dc.identifier.urihttps://hdl.handle.net/11454/47786
dc.identifier.volume19en_US
dc.identifier.wosWOS:000316511000009en_US
dc.identifier.wosqualityQ1en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherElsevier Sci Ltden_US
dc.relation.ispartofParkinsonism & Related Disordersen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectJuvenile parkinsonismen_US
dc.subjectDNAJC6en_US
dc.subjectRecessive parkinsonismen_US
dc.subjectEpilepsyen_US
dc.subjectMental retardationen_US
dc.titleDNAJC6 is responsible for juvenile parkinsonism with phenotypic variabilityen_US
dc.typeArticleen_US

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